Ataxia

Delirium is a serious neuropsychiatric syndrome of acute onset that occurs in approximately one in five general hospital patients and is associated with serious adverse outcomes that include loss of adaptive function, persistent cognitive problems and increased mortality. Recent studies indicate a three-domain model for delirium that includes generalised cognitive impairment, disturbed executive cognition, and disruption of behaviours that are under circadian control such as sleep-wake cycle and motor activity levels. As a consequence, attention has focused upon the possible role of the circadian timing system (CTS) in the pathophysiology of delirium. We explored this possibility by reviewing evidence that (1) many symptoms that occur in delirium are influenced by circadian rhythms, (2) many features of recognised circadian rhythm disorders are similar to characteristic features of delirium, (3) common risk factors for delirium are known to disrupt circadian systems, (4) physiological disturbances of circadian systems have been noted in delirious patients, and (5) positive effects in the treatment of delirium have been demonstrated for melatonin and related agents that influence the circadian timing system. A programme of future studies that can help to clarify the relevance of circadian integrity to delirium is described. Such work can provide a better understanding of the pathophysiology of delirium while also identifying opportunities for more targeted therapeutic efforts.

The cerebellar role in non-motor functions is supported by the clinical finding that lesions confined to cerebellum produce the cerebellar cognitive affective syndrome. Nevertheless, there is no consensus regarding the overall cerebellar contribution to cognition. Among other reasons, this deficiency might be attributed to the small sample sizes and narrow breadths of existing studies on lesions in cerebellar patients, which have focused primarily on a single cognitive domain. The aim of this study was to examine the expression of cerebellar cognitive affective syndrome with regard to lesion topography in a large group of subjects with cerebellar damage. We retrospectively analysed charts from patients in the Ataxia Lab of Santa Lucia Foundation between 1997 and 2007. Of 223 charts, 156 were included in the study, focusing on the importance of the cerebellum in cognition and the relevance of lesion topography in defining the cognitive domains that have been affected. Vascular topog-...

Autosomal dominant cerebellar ataxia, currently denominated Spinocerebellar ataxia (SCAs) represents a heterogeneous group of neurodegenerative disorders affecting the cerebellum and its connections. We describe clinical and molecular findings in sixteen patients originating from Malian families, who suffer from progressive cerebellar ataxia syndrome. Molecular analysis allows genetic profiles of spinocerebellar ataxia to be distinguished. In seven patients, SCA type 2 (CAG) mutation was expanded from 39 to 43 repeats. SCA type 7(CAG)mutation was confirmed in six patients .Mutations were expanded from 49 to 59 repeats. In three patients, SCA type 3 was diagnosed and CAG mutation was expanded to 73 repeats. Conclusions-Our data suggests that the most frequent types of SCA are SCA2 and SCA7. However, further studies are needed to confirm these preliminary results.

Alternating hemiplegia of children is a rare neurological disorder that in its characteristic form has few differential diagnosis. The diagnosis of intractable seizures is difficult to avoid for physicians not aware of the disease. To describe the clinical characteristics of Alternating Hemiplegia of Childhood (AHC), and response to various drugs A Ghanaian child with AHC was followed up for three years at the Neurology Clinic, Korle Bu Teaching Hospital, Accra. Her characteristics including EEG and MRI findings were documented. She was severely unsuccessfully treated as an epileptic. Further clinical re-evaluation provided clues to the diagnosis of alternating hemiplegia of childhood. The child, a female patient, was seen within the first week of life. The initial complaints were abnormal eye movements, and subsequently recurrent hemiplegic episodes, that started at age two and lasted hours to days. Attacks occurred at a frequency of about three per month and lasted from several ho...

This paper examined the effectiveness of postural training on upper extremity performance in an ataxic individual. The ataxia resulted from a brain stem stroke. Before-after, single-subject experimental design. Four-week course of postural training, comprised of three one-hour sessions/week. The patient demonstrated an increase in function of the ataxic limb, as evidenced by appreciable increases in the Fugl-Meyer score and modest increases in the Postural Assessment Scale for Stroke Patients (PASS) score. Improvement in postural control influences upper extremity function affecting the speed and accuracy of the movement. We demonstrate the effectiveness of using postural training as an intervention towards reducing the effects of ataxia, a movement coordination impairment for which relatively few therapeutic techniques have been specifically developed or evaluated.

Peripheral pain and ataxic tremor can appear suddenly following thalamic stroke and can significantly alter a patient's psychological, social, and physical functioning. The present paper reports the case of a 70-year-old Caucasian female who sustained an acute left posterior cerebral artery infarction involving the thalamus and left mesiotemporal regions. She subsequently developed Central Poststroke Pain and ataxic movement of her right arm and hand in addition to a significant right-side claudication. She was treated over 16 weeks (6 weeks of EMG biofeedback and 10 weeks of psychotherapy) with a combination of EMG biofeedback, progressive muscle relaxation, behavioral pain coping skills training, Forced Use Therapy, and Cognitive Behavioral Therapy 7 years after her initial cerebral accident. The case demonstrates the utility of biofeedback when combined as part of a comprehensive treatment program to address the multiple complications associated with thalamic stroke.

We describe a 20-year-old man with tyrosinase-negative oculocutaneous albinism, mental retardation, epilepsy, sensorineural deafness, ataxia, and Bartter syndrome. When combined, these neurocutaneous and renal findings form a previously unreported combination.

Celiac Disease (CD) is an immune-mediated disease dependent on gluten (a protein present in wheat, rye or barley) that occurs in about 1% of the population and is generally characterized by gastrointestinal complaints. More recently the understanding and knowledge of gluten sensitivity (GS), has emerged as an illness distinct from celiac disease with an estimated prevalence 6 times that of CD. Gluten sensitive people do not have villous atrophy or antibodies that are present in celiac disease, but rather they can test positive for antibodies to gliadin. Both CD and GS may present with a variety of neurologic and psychiatric co-morbidities, however, extraintestinal symptoms may be the prime presentation in those with GS. However, gluten sensitivity remains undertreated and underrecognized as a contributing factor to psychiatric and neurologic manifestiations. This review focuses on neurologic and psychiatric manifestations implicated with gluten sensitivity, reviews the emergence of gluten sensitivity distinct from celiac disease, and summarizes the potential mechanisms related to this immune reaction.

A significant number of patients with progressive leukodystrophy do not have a definitive diagnosis. This report describes the clinical, morphological, and biochemical characteristics of 4 unrelated girls with progressive ataxic diplegia of unknown etiology. These patients had normal development until the ages of 1.5 to 5 years. A diffuse confluent abnormality of the white matter of the central nervous system was present on computed tomography and magnetic resonance scans obtained early in the course of the illness. Dementia was not present and peripheral nerves were normal. All patients were evaluated for known metabolic and degenerative diseases and no abnormalities were observed. Light and electron microscopy of open-brain biopsy specimens from 2 girls showed selective white matter abnormalities including hypomyelination, demyelination, and gliosis. Myelin-specific proteins in the subcortical white matter were examined immunocytochemically and by Western blot analysis. They were of normal molecular size but were markedly reduced in quantity in both patients compared to control subjects. Lipid analysis revealed decreased levels of characteristic myelin lipids. When examined by magnetic resonance spectroscopic imaging, all patients showed a marked decrease of N-acetylaspartic acid, choline, and creatine in white matter only. The magnetic resonance spectroscopic imaging profile is a unique diagnostic feature of this clinicopathological syndrome.

Objectives-The syndrome of X-linked sideroblastic anaemia with ataxia is rare, described only twice in the literature. The aim was to obtain clinical neurological and haematological data about this rare syndrome throughout adult life. Methods-A family is described with two aVected brothers and two aVected maternal uncles. The family was evaluated clinically.

Sensitivity to ethanol-induced motor incoordination in FAST and SLOW selectively bred mice. PHARMACOL BIOCHEM BEHAV 66 (2) 241-247, 2000.-Earlier studies using the grid test have indicated a negative genetic correlation between sensitivity to ethanol-induced locomotor stimulation and ethanolinduced motor incoordination in FAST and SLOW mice, lines selectively bred for differential sensitivity to ethanol's stimulant effects. Because different tests of motor coordination may not measure the same behavioral competencies or physiological substrates, the present experiments tested adult ethanol-or saline-exposed FAST and SLOW mice of two replicates (FAST-1, FAST-2, SLOW-1, and SLOW-2) using three additional tests of coordination: a stationary dowel, fixed-speed rotarod, and accelerating rotarod. After ethanol treatment, FAST-1 mice fell from the stationary dowel at shorter latencies than SLOW-1 mice, suggesting that they had relatively greater sensitivity to ethanol. However, brain ethanol concentrations (BrECs) were similar at time of fall, and no differences were found between replicate-2 lines. SLOW-1 mice fell from the fixed-speed rotarod at lower BrECs than FAST-1 mice, suggesting possibly greater sensitivity of the SLOW-1 line. Again, no replicate-2 line differences were found. No significant differences were detected for the accelerating rotarod. These results provide little support for a negative genetic relationship between sensitivity to the stimulant and ataxic effects of ethanol using these measures of motor coordination.

In the present paper, we review the main concepts of the dynamical systems approach to bimanual coordination and propose applications to therapeutic intervention for functional recovery of coordinated movements in stroke. Further, we describe the behavioral alterations of discrete bimanual coordination resulting from cerebral vascular accident (CVA) lesions and speculate on the possibility of mimicking the mechanisms of CVA lesions via symmetry breaking in dynamic systems.

In literature, variable resistance exercises have reported as a rehabilitation for motor improvement in cerebellar/extremity ataxia. In this study, a new rehabilitation device has been designed for training ataxic patients for developing upper extremity functions. In order to provide coordination muscle exercises, circular movements with different resistance patterns have been suggested. The designed device is setup of a rotary magneto-rheological brake (MR), force sensor, and a brace. Pulse width modulation (PWM) scheme has been proposed as a simple control technique to generate MR brake current relating to the selected reference resistance pattern. The experimental results have been discussed.

In assessing and assimilating the neurodevelopmental basis of the so-called movement disorders it is probably useful to establish certain concepts that will modulate both the variation and selection of affliction, mechanisms-processes and diversity of disease states. Both genetic, developmental and degenerative aberrations are to be encompassed within such an approach, as well as all deviations from the necessary components of behaviour that are generally understood to incorporate "normal" functioning. In the present treatise, both conditions of hyperactivity/hypoactivity, akinesia and bradykinesia together with a constellation of other symptoms and syndromes are considered in conjunction with the neuropharmacological and brain morphological alterations that may or may not accompany them, e.g. following neonatal denervation. As a case in point, the neuroanatomical and neurochemical points of interaction in Attention Deficit and Hyperactivity disorder (ADHD) are examined with reference to both the perinatal metallic and organic environment and genetic backgrounds. The role of apoptosis, as opposed to necrosis, in cell death during brain development necessitates careful considerations of the current explosion of evidence for brain nerve growth factors, neurotrophins and cytokines, and the processes regulating their appearance, release and fate. Some of these processes may possess putative inherited characteristics, like asynuclein, others may to greater or lesser extents be endogenous or semi-endogenous (in food), like the tetrahydroisoquinolines, others exogenous until inhaled or injested through environmental accident, like heavy metals, e.g. mercury. Another central concept of neurodevelopment is cellular plasticity, thereby underlining the essential involvement of glutamate systems and Nmethyl-D-aspartate receptor configurations. Finally, an essential assimilation of brain development in disease must delineate the relative merits of inherited as opposed to environmental risks not only for the commonly-regarded movement disorders, like Parkinson's disease, Huntington's disease and epilepsy, but also for afflictions bearing strong elements of psychosocial tragedy, like ADHD, autism and Savantism.

Movement disturbances are common in dementia disorders and are a central feature of the clinical classification criteria of Creutzfeldt-Jakob disease (CJD). Polymorphism at codon 129 of the prion protein gene is known to determine the clinical picture of CJD. The frequency and characteristics of movement disturbances in other dementing disorders, such as Alzheimer's disease (AD), is barely known and leads to misdiagnoses. We investigated the occurrence and characteristics of movement disturbances in 143 patients neuropathologically confirmed with CJD (n 5 100), AD (n 5 29), dementia with Lewy bodies (DLB) (n 5 7), or other diagnoses (n 5 7). All patients had been referred with the differential diagnosis of prion disease. Ataxia and dysmetria were significantly more frequent in CJD than in AD or DLB patients, whereas hypokinesia was up to five times more frequent in AD or DLB (P < 0.05). Using an ordered logistic regression to identify constellations of movement disturbances, the diagnosis of CJD was likely in patients presenting ataxia but not hypokinesia. The reverse situation was statistically associated with AD. Ataxia and cogwheel rigidity were associated with valine-homozygosity and akinesia with methionine-homozygosity in the CJD patients. Our results indicate that the careful assessment of movement disturbances may be helpful in the differential diagnosis of Creutzfeldt-Jakob disease.

Lower urinary tract dysfunction is one of the challenging problems to urologists and patients. Several treatment trials have been introduced to the literature, but none has proven to be as effective as being a gold standard treatment for such conditions. We reviewed the literature regarding the use of botulinum toxin (BTx) type A as a current treatment of lower urinary tract conditions described below. The toxin has been shown to be safe and effective in the treatment of conditions caused by increased muscle tonicity. Indications for the urological use of BTx and future applications are also considered.

Butalbital (Fiorinal ® ), used in the treatment of migraines and muscle pain, is the most commonly encountered barbiturate in impaired driving cases. It has central nervous system (CNS) depressant properties, including sedation, drowsiness, and feelings of intoxication, which can contribute to driving impairment. Twenty-six driving under the influence cases are reviewed including results from field sobriety tests and toxicology testing. Blood samples were screened using enzyme multiplied immunoassay technique immunoassay, and the presence of butalbital was confirmed and quantified using gas chromatography/mass spectrometry, gas chromatography with flame ionization detection, or gas chromatography nitrogen/phosphorus detection. Butalbital concentrations ranged from 1.0 to 30.2 mg/L, with a mean and median of 16.0 mg/L. General impairment indicators in these cases included horizontal and vertical nystagmus, lack of convergence, poor motor coordination, and balance and speech problems, which are common to CNS depressant intoxication, similar to that associated with alcohol. These findings indicate the importance of toxicological testing for butalbital in cases where CNS depressants are indicated. Rieders Family Renaissance Foundation,

A taxic dysarthria is a motor speech disorder associated with cerebellar dysfunction. The dysarthria appears to be related to a disturbance in the neural mechanisms that underlie the coordination, temporal regulation, and quasi-automatic control of respiratory, phonatory, and articulatory movements for speech. The symptoms of ataxic dysarthria vary, and may include any, or a combination, of the following abnormalities: imprecise articulation, momentary irregular articulatory breakdowns, slow rate of speech, excess and equal stress, monoloudness, monopitch, prolonged syllables, irregular intrasyllabic voice fundamental frequency (F0) inflections, and breathy, weak, or unstable voice. Physiologic studies of ataxic dysarthria have documented slow movements, temporal dysregulation, errors of direction and range of movements, impaired ability to increase muscular forces in order to produce rapid movements, and reduced or exaggerated range of movements involving the respiratory, phonatory, or articulatory systems. These abnormalities may be accompanied by other signs of cerebellar dysfunction, such as hypotonia, broad-based stance and gait, truncal instability, dysmetria, tremor, and dysdiadochokinesis .

A case of ataxia with isolated vitamin E deficiency, in conjunction with supportive genetic studies, is reported. This is a neurodegenerative condition that involves a mutation in the tocopherol (α) transfer protein gene (TTPA). Measurement of serum vitamin E concentration should be included as part of the investigations in children with progressive ataxia, even in the absence of fat malabsorption. Early treatment with vitamin E may protect such patients against further neurological damage.

Although clinical, pathological, and biochemical effects of organophosphorus-induced delayed neuropathy (OPIDN) have been intensively investigated in the adult hen, detailed electrophysiological studies are lacking. Adult white leghorn hens were treated with a single oral dose of either 30 mg/kg tri-2-cresyl phosphate (TOCP), 750 mg/kg TOCP. 4 mg/kg di-n-butyl-2,2dichlorovinyl phosphate (DBCV). or 30 mg/kg di-n-butyl-2,2-dichlorovinyl phosphinate (DBCV-P). The 750 mg/kg TOCP and DBCV, but not the 30 mg/kg TOCP and DBCV-P. treatments resulted in clinical signs of OPIDN and mild to marked damage of the tibia1 nerve 2 1 days after dose. Twenty-four hr lymphocyte neurotoxic esterase (NTE) inhibition was used as an index ofbrain NTE inhibition for the various organophosphorus compound (OP) treatment. Twenty-four hr lymphocyte NTE inhibition for 30 mg/kg TOCP. 750 mg/kg TOCP, DBCV. and DBCV-P was 54.1, 87.1, 84.8. and 68.3%. respectively. Twenty-one days after dose, the TOCP-treated hens exhibited some abnormalities in conduction velocity and action potential duration in the tibia1 or sciatic nerves. No abnormalities were observed in action potential parameters of either the DBCV or DBCV-P treatments. Neurotoxic OP (TOCP and DBCV) treatment resulted in decreased refractoriness in the tibia1 nerve, increased refractoriness in the sciatic nerve, and elevated strength duration threshold for both nerves. These changes were not present in nerves from DBCV-P (a non-neurotoxic NTE inhibitor)-treated hens. These results suggest that refractory period and strength duration abnormalities in peripheral nerve correlate well with the production of OPIDN and are evident without coincident clinical signs or histopathology. &I 1987 Academic PRSS, Inc.

Balint syndrome is a combination of symptoms including simultanagnosia, a disorder of spatial and object-based attention, disturbed spatial perception and representation, and optic ataxia resulting from bilateral parieto-occipital lesions. Fixation and ocular exploration of space are severely impaired, as are reading, writing, drawing and orientation as well as movement in space. Low-level visual impairments may be associated and difficult to evaluate but are not a necessary element of Balint syndrome. This review summarizes the relevant facts of the etiology, localization of lesions, and the core features as well as frequently associated disorders of the syndrome. Instructions for the examination of patients are given and approaches for the management and treatment outlined. Models of attention and space representation are described for the explanation of this multifaceted and exciting syndrome. Finally the key features of the syndrome are summarized in a table at the end of the pa...

Por lo tanto, este libro puede ser un poco más incómodo que el volumen previo. Toleren la incomodidad cuando la perciban. Sosténganse firmemente del bote si éste empieza a mecerse. Después vivan con un nuevo paradigma. Mejor aún, por medio del prodigio y el ejemplo de la propia vida que han llevado, ayuden a crear otra.

There is little information on the frequency of movement disorders seen by physicians in the continent of Africa. We performed a medical record review of all patients seen in a university-based neurology clinic in Addis Ababa, Ethiopia, over 1 year to determine the frequency of movement disorders seen, disease characteristics, diagnostic evaluations, and treatment. A total of 15.1% of the neurological patients were seen for movement disorders. Of these, most were for parkinsonism (47.7%), followed by ataxia (16.5%), dystonia (8.3%), essential tremor (8.3%), chorea (7.3%), and miscellaneous (11.9%). Diagnostic eval-

Symptoms management in multiple sclerosis is an integral part of its care. Accurate assessment and addressing the different symptoms provides increased quality of life among patients with multiple sclerosis. Multiple sclerosis symptoms may be identified as primary, secondary, or tertiary symptoms. Primary symptoms, such as weakness, sensory loss, and ataxia, are directly related to demyelination and axonal loss. Secondary symptoms, such as urinary tract infections as a result of urinary retention, are a result of the primary symptoms. Tertiary symptoms, such as reactive depression or social isolation, are a result of the social and psychological consequences of the disease. Common multiple sclerosis symptoms include fatigue and weakness; decreased balance, spasticity and gait problems; depression and cognitive issues; bladder, bowel, and sexual deficits; visual and sensory loss; and neuropathic pain. Less-common symptoms include dysarthria and dysphagia, vertigo, and tremors. Rare s...

We studied five families with pediatric-onset recessive spastic ataxia from Turkey. The clinical characteristics and linkage studies are compatible with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). SACS mutations are responsible for ARSACS in QuØbec families. In four of the five families tested we detected new disease-causing mutations using automated sequencing of SACS. Our study raises to 12 the number of SACS mutations detected in ARSACS patients with origins around the Mediterranean basin.

Acquired cerebellar lesions are associated with motor speech deficits. Spina bifida with hydrocephalus (SBH) is a neurodevelopmental disorder that involves significant dysmorphology of the cerebellum. Videotaped narratives produced by 40 children and adults with SBH and their 40 age-matched controls were coded for three motor speech deficits: dysfluency, ataxic dysarthria (articulatory inaccuracy, prosodic excess, and phonatory-prosodic insufficiency) , and speech rate. Individuals with SBH had more motor speech deficits than controls. Dysfluency was related to an interaction between chronological age and SBH. Speech rate was related independently to chronological age and SBH. Ataxic dysarthria was related to the biology of SBH, and was associated with both physical phenotype (level of spinal cord lesion) and medical history (number of shunt revisions). The data show that developmental as well as acquired lesions of the cerebellum disrupt motor speech, and add to the developmental role of the cerebellum in the automatization of motor skills, including speech. © 2002 Elsevier Science (USA)

A taxic dysarthria is a motor speech disorder associated with cerebellar dysfunction. The dysarthria appears to be related to a disturbance in the neural mechanisms that underlie the coordination, temporal regulation, and quasi-automatic control of respiratory, phonatory, and articulatory movements for speech. The symptoms of ataxic dysarthria vary, and may include any, or a combination, of the following abnormalities: imprecise articulation, momentary irregular articulatory breakdowns, slow rate of speech, excess and equal stress, monoloudness, monopitch, prolonged syllables, irregular intrasyllabic voice fundamental frequency (F0) inflections, and breathy, weak, or unstable voice. Physiologic studies of ataxic dysarthria have documented slow movements, temporal dysregulation, errors of direction and range of movements, impaired ability to increase muscular forces in order to produce rapid movements, and reduced or exaggerated range of movements involving the respiratory, phonatory, or articulatory systems. These abnormalities may be accompanied by other signs of cerebellar dysfunction, such as hypotonia, broad-based stance and gait, truncal instability, dysmetria, tremor, and dysdiadochokinesis .

To assess the clinical spectrum of ataxia and cerebellar oculomotor deficits in the most common spinocerebellar ataxias (SCAs), we analysed the baseline data of the EUROSCA natural history study, a multicentric cohort study of 526 patients with either spinocerebellar ataxia type 1, 2, 3 or 6. To quantify ataxia symptoms, we used the Scale for the Assessment and Rating of Ataxia (SARA). The presence of cerebellar oculomotor signs was assessed using the Inventory of Non-Ataxia Symptoms (INAS). In a subgroup of patients, in which magnetic resonance images (MRIs) were available, we correlated MRI morphometric measures with clinical signs on an exploratory basis. The SARA subscores posture and gait (items 1-3), speech (item 4) and the limb kinetic subscore (items 5-8) did not differ between the genotypes. The scores of SARA item 3 (sitting), 5 (finger chase) and 6 (nose-finger test) differed between the subtypes whereas the scores of the remaining items were not different. In SCA1, ataxia symptoms were correlated with brainstem atrophy and in SCA3 with both brainstem and cerebellar atrophy. Cerebellar oculomotor deficits were most frequent in SCA6 followed by SCA3, whereas these abnormalities were less frequent in SCA1 and SCA2. Our data suggest that vestibulocerebellar, spinocerebellar and pontocerebellar circuits in SCA1, SCA2, SCA3 and SCA6 are functionally impaired to almost the same degree, but at different anatomical levels. The seemingly low prevalence of cerebellar oculomotor deficits in SCA1 and SCA2 is most probably related to the defective saccadic system in these disorders.

Background. Better understanding of how bimanual coordination changes over the first weeks of recovery after stroke is required to address the potential utility for bimanual rehabilitation. Three-dimensional kinematic analysis can provide quantitative assessment of unimanual and bimanual movements. Objective. To assess the natural evolution of reaching kinematics during standard poststroke rehabilitation, focusing on bimanual coordination. Methods. A total of 12 hemiparetic, moderately impaired patients were included within 30 days after a first unilateral ischemic/hemorrhagic stroke; 7 kinematic assessments were performed once a week for 6 weeks and at 3 months after inclusion. The reach-to-grasp task was performed in 3 different conditions: unimanual with the healthy limb (UN), unimanual with the paretic limb (UP), and bimanual (BN/BP). Results. For the paretic limb, movement fluency (number of movement units and total movement time) was lower for bimanual reaching compared with unimanual reaching. For bimanual reaching, (1) movement kinematics were similar for both limbs, (2) recovery patterns of both limbs followed a similar profile with a plateau phase at 6 weeks poststroke, and (3) intertrial variability of between-hands synchronization decreased over sessions, although the mean delays remained the same. Conclusions. Bimanual coordination started to become efficient 6 weeks after onset of stroke, so for patients such as those we tested, this time could be most opportune to start bimanual-oriented rehabilitation. The challenge in future research includes determining the characteristics of patients who may best benefit from bimanual therapy.

Spinocerebellar ataxias (SCAs) are a group of clinically and genetically heterogeneous neurological diseases. The expansion of unstable microsatellite repeats has been identified as the underlying pathogenic cause of 10 subtypes of autosomal dominant SCAs. The aetiology of sporadic SCA is unknown. The aim of this study was to investigate the effect of large normal repeats in patients presenting with sporadic or familial ataxia compared to a control population. The size of the expansion was determined using a fluorescent PCR approach in 10 common SCA genes: SCA-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and DRPLA (ATN1), in 165 ataxia patients and 307 controls of Welsh origin. There was no difference between cases and controls in the distribution of the large normal alleles, or in the distribution of the combined CAG repeats. The normal allele distribution in the Welsh population was largely similar to that of other Caucasian populations. Our study failed to demonstrate an effect of large normal repeats on the susceptibility to develop ataxia.

N-Methyl-D-aspartate (NMDA) receptor antagonists cause hyperlocomotion and cognitive deficits in rodents, and caffeine-tolerant mice show diminished locomotor response to NMDA receptor antagonists. The aim of this study was to evaluate the effect of subchronic caffeine treatment on MK-801-induced hyperlocomotion, ataxia and cognitive deficits, as well as amphetamine-induced hyperlocomotion in mice. Mice were treated subchronically with caffeine (0, 0.1, 0.3 and 1 mg/ml and 1, 3 and 7 days) and evaluated for locomotor activity, working memory (delayed alternation test), long-term memory (inhibitory avoidance task) and ataxia. Hyperlocomotion induced by MK-801 (0.25 mg/kg i.p.) was diminished after 3 days and almost abolished after 7 days of caffeine treatment at the 1 mg/ml dose, and this effect was also dose-dependent. Ataxia induced by 0.5 mg/kg MK-801 was not affected by caffeine treatment, but a short-lived hyperlocomotor effect was observed. Performance deficit in the inhibitory avoidance task induced by MK-801 (0.01 mg/kg) was prevented in mice treated with caffeine for 7 days at 1 mg/ml, and perseverative errors in the T-maze by MK-801 (0.4 mg/kg) were attenuated. The locomotor effect of amphetamine (5 mg/kg) was unaffected by subchronic caffeine treatment. The findings that hyperlocomotion and cognitive effects induced by MK-801 can be specifically influenced by reduced adenosinergic activity agree with a model of adenosine hypofunction in schizophrenia, since NMDA receptor antagonists are pharmacological models for this disorder. Behavioural Pharmacology 16:79-84 c 2005 Lippincott Williams & Wilkins. Behavioural Pharmacology 2005, 16:79-84 . ( ± interquartile range) total and perserverative error scores. Whiskers indicate 5 and 95 percentiles. Animals received i.p.) immediately after the pre-test session, which was 30 min before the testing session. * = P < 0.05 compared to total errors of the water control group; # = P < 0.05 compared pre-test scores; * indicates outliers from the 5 to 95 percentile interval (Mann-Whitney U and Wilcoxon tests; n = 8).

We describe a familial mental retardation syndrome in a 30 year old, moderately mentally retarded female and her 59 year old maternal aunt. Both presented the distinct association of (1) a nonprogressive neurological syndrome with ataxia and hypotonia, (2) similar craniofacial appearance with a narrow forehead, prominent supraorbital ridges and tendency to synophrys, deeply set eyes with short, upward slanting palpebral fissures, short philtrum, and large mouth, (3) hypergonadotrophic hypogonadism, and (4) retinal dystrophy with onset in early adulthood.

To assess and compare the effects of 6 mo of Pilates and calisthenics on multijoint coordination and proprioception of the lower limbs at the 3rd and 6th mo of training. Randomized, controlled, assessor-blinded, repeated-measures. University research laboratory. Healthy, sedentary, female participants age 25-50 y were recruited and randomly divided into 3 groups: a calisthenic exercise group (n = 34, mean age ± SD 40 ± 8 y, body-mass index [BMI] 31.04 ± 4.83 kg/m2), a Pilates exercise group (n = 32, mean age ± SD 37 ± 8 y, BMI 31.04 ± 4.83 kg/m2), and a control group (n = 41, mean age ± SD 41 ± 7 y, BMI 27.09 ± 4.77 kg/m2). The calisthenics and Pilates groups underwent related training programs for 6 mo, while the controls had no specific training. Coordination and proprioception of the lower extremities with concentric and eccentric performances in the closed kinetic chain assessed with the monitored rehab functional squat system at baseline and at the 3rd and 6th mo of training. F...