1/14. Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.Non-specific X-linked mental retardation is a heterogeneous group of disorders with an incidence of approximately 1 in 500 males. A recently identified gene in Xq12, encoding a Rho-GTPase-activating protein, was found to be mutated in individuals with mental retardation. We describe here two sisters with a 46,XY karyotype and a microdeletion of the oligophrenin-1 gene and 1.1 Mb of flanking dna. We have characterised the molecular interval defining this microdeletion syndrome with the fibre-FISH technique. A visual physical map of 1.2 Mb was constructed which spans the oligophrenin-1 gene and the androgen receptor gene. The analysis of the patients revealed a deletion which extended from the 5' end of the AR gene to a region approximately 80 kb proximal to the EPLG2 gene. The clinical manifestations of the two sisters include psychomotor retardation, seizures, ataxia, hypotonia and complete androgen insensitivity. Cranial MRI scans show enlargement of the cerebral ventricles and cerebellar hypoplasia. Our findings give further support for the involvement of the oligophrenin-1 gene in specific morphological abnormalities of the brain which is of importance in the investigation of male patients presenting with mental retardation. In combination with our results from physical mapping we suggest that a region around the oligophrenin-1 locus is relatively bereft of vital genes.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/14. Electromyographic (EMG) biofeedback in the comprehensive treatment of central pain and ataxic tremor following thalamic stroke.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.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
3/14. Presentation of a previously asymptomatic Chiari I malformation by a flexion injury to the neck.Flexion injury and/or whiplash injury to the neck in car accidents are usually trivial injuries with no serious neurological deficits. Our intention was to point out the importance to proceed with diagnostic procedures if neurological deficits do occur in order to reveal the true cause of the deficit. The paper presents the case of a 35-year-old woman who sustained a flexion injury to the neck. A relatively trivial injury to the neck promoted a progressive neurological deterioration. The standard diagnostic procedures (x-ray, computed tomography scan) were normal. Further diagnostics with magnetic resonance imaging was required to reveal an underlying Chiari I malformation. Finally, the operative decompression of the craniocervical junction was performed. Following the surgical treatment, the patient's clinical symptoms regressed. One year after her discharge, she remains in good physical condition. To our knowledge, this case is the first report of the manifestation of Chiari I malformation in the adult as a result of a flexion or whiplash injury of the neck. This unusual case suggests that in a trivial flexion injury to the neck sustained in a car accident, which presents with serious neurological dysfunction, and where the standard diagnostic procedures are normal, the possibility of underlying congenital abnormality, such as Chiari I malformation should be considered.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
4/14. Blue rubber bleb nevus syndrome in a patient with ataxia and dementia.Blue rubber bleb nevus syndrome (BRBNS), an uncommon disorder characterized by cavernous hemangiomas, most often of the skin and gastrointestinal tract, is usually diagnosed during childhood and young adulthood. We made this diagnosis in an octogenarian referred to a geriatric medicine clinic because of concerns about his ability to live independently. Ataxia, dementia, focal neurologic signs, and bluish/purplish vascular nodules on his lips, buccal mucosa, tongue, chest, and neck were noted on physical examination. magnetic resonance imaging (MRI) revealed an old left parietal infarction, multiple cavernous hemangiomas most densely concentrated in the subcortical structures and cerebellum, and areas of hemosiderin deposition. skin biopsy findings were consistent with hemangioma. The physical examination, MRI, and skin biopsy made a diagnosis of BRBNS likely. The patient's ataxia, dementia, and other neurologic signs can be explained by previous hemorrhage from the vascular malformations in his brain. Blue rubber bleb nevus syndrome is an uncommon cause of a relatively common geriatric syndrome presentation.- - - - - - - - - - ranking = 6.6606045453073keywords = physical examination, physical (Clic here for more details about this article) |
5/14. Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy.Episodic ataxia type1 (EA1) is an autosomal dominant disorder characterised by episodes of ataxia, dysarthria, tremor and visual disturbances lasting for seconds or minutes, precipitated by physical and emotional stress, startle or sudden movements. In addition there is continuous myokymia. Phenotypic variants such as the combination with epilepsy, shortening of the achilles tendon in children, transient postural abnormalities in infancy, and a very few patients with longer lasting episodes have been reported. We describe a 10-year-old girl with EA1 who has distal weakness with paresis of the extensors of the feet and prolonged spells of limb stiffness (neuromyotonia) lasting up to 12 hours. A novel single nucleotide change at position 785 T > C that alters a highly conserved residue in the third transmembrane segment of the voltage-gated potassium channel Kv1.1 was found.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
6/14. Preserved prism adaptation in bilateral optic ataxia: strategic versus adaptive reaction to prisms.To date the anatomical substrate(s) of prism adaptation remain(s) particularly debated, with two main candidates emerging from the literature: the posterior parietal cortex (PPC) and the cerebellum. The functional processes involved in the acquisition of the adaptive aftereffects also remain largely unknown. The main result shown here is that a patient with a bilateral optic ataxia can adapt to an optical deviation, which allows us to make a step forward on these two issues. First, it demonstrates that the corresponding part of the PPC is not a necessary substrate for prism adaptation. Second, since this patient exhibits deficit for fast visuo-motor guidance, it provides direct evidence for a dissociation between on-line visuo-motor control and visuo-motor plasticity. Since the intermanual transfer rate of adaptation is larger in this patient than in control subjects, the PPC may still have an influence on adaptation under normal conditions. We propose a model of the relative contribution of the PPC and the cerebellum during prism exposure, associating these two structures with the two interacting behavioural components of prism adaptation described by previous psychophysical experiments: the strategic component would be linked to the PPC and the adaptive component to the cerebellum. In this model, the strategic component enters in conflict with the development and the generalisation of the adaptive aftereffects. This idea is compatible with the fact that a lesion of the PPC increases the transfer rate and the generalisation of the adaptation, as is also observed in unilateral neglect.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
7/14. Progressive posterior cortical dysfunction: a clinicopathologic series.BACKGROUND: Atypical presentations of neurodegenerative dementing disorders include the syndrome of progressive posterior cortical dysfunction (PPCD) involving selective higher order visuospatial deficits. The neuropathologic correlates of PPCD remain poorly defined. methods: This is a retrospective case series of 27 individuals (14 men, 13 women) diagnosed clinically with PPCD. Participants were either enrolled in the Alzheimer's Disease research Center (ADRC) or referred to the memory diagnostic center of an urban academic medical center. Clinical evaluations included physical and neurologic examinations, the Clinical dementia Rating (CDR), and psychometric measures. Neuropathologic examinations were completed in 21 individuals with PPCD. Psychometric measures from 65 individuals with mild dementia of the Alzheimer type (DAT) enrolled in the ADRC were used for comparison. RESULTS: Neuropathologic etiologies of PPCD were alzheimer disease (AD) (n = 13), AD plus parkinson disease (n = 1), AD-Lewy body variant (n = 2), dementia with lewy bodies plus progressive subcortical gliosis of Neumann (n = 1), corticobasal degeneration (n = 2), and prion-associated diseases: Creutzfeldt-Jakob disease (n = 1) and fatal familial insomnia (n = 1). Confirming the clinical impression, psychometric profiles for individuals with PPCD differed from those of people with DAT alone and revealed disproportionate deficits on measures of visuospatial ability. CONCLUSIONS: AD was the most frequent cause of PPCD in this series, although non-Alzheimer's dementing disorders also should be considered.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
8/14. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics.BACKGROUND: CACNA1A encodes CaV2.1, the pore-forming subunit of P/Q-type voltage-gated calcium channel complexes. Mutations in CACNA1A cause a wide range of neurologic disturbances variably associated with cerebellar degeneration. Functional studies to date focus on electrophysiologic defects that do not adequately explain the phenotypic findings. OBJECTIVE: To investigate whether some missense mutations might interfere with protein folding and trafficking, eventually leading to protein aggregation and neuronal injury. methods: The authors studied the functional consequences of two pore missense mutations, C287Y and G293R, in two families with EA2, one newly discovered and the other previously reported. Both mutations caused episodic and interictal ataxia. The biophysical properties of mutant and wild type calcium channels were examined by whole-cell patch-clamp recordings in transfected COS-7 cells. The plasma membrane targeting was visualized by confocal fluorescence imaging on CaV2.1 tagged with green fluorescent protein. RESULTS: The mutant channels exhibited a marked reduction in current expression and deficiencies in plasma membrane targeting. CONCLUSIONS: In addition to altered channel function, the deficiency in protein misfolding and trafficking associated with the C287Y and G293R mutants may contribute to the slowly progressive cerebellar ataxia.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
9/14. tick paralysis: atypical presentation, unusual location.We present 2 unrelated cases of tick paralysis presenting within a 2-month period in the greater philadelphia region, a geographic area in which this disease is highly unusual. Our first patient demonstrated early onset of prominent bulbar palsies, an atypical presentation. Our second patient, residing in a nearby but distinct community, presented with ascending paralysis 2 months after the first. The atypical presentation of our first patient and the further occurrence within a few months of a second patient, both from the Northeastern united states where this diagnosis is rarely made, suggest the need to maintain a high index of suspicion for this disease in patients presenting with acute onset of cranial nerve dysfunction or muscle weakness. Through simple diagnostic and therapeutic measures (ie, careful physical examination to locate and remove the offending tick), misdiagnosis and unnecessary morbidity can be avoided.- - - - - - - - - - ranking = 3.3303022726536keywords = physical examination, physical (Clic here for more details about this article) |
10/14. natural history of symptomatic partial ornithine transcarbamylase deficiency.We reviewed the natural history and differential diagnosis of ornithine transcarbamylase deficiency (an X-linked inborn error of urea synthesis) in 13 symptomatic female heterozygotes. The patients presented as early as the first week of life or as late as the sixth year. The most common symptoms before diagnosis were nonspecific: episodic extreme irritability (100 percent), episodic vomiting and lethargy (100 percent), protein avoidance (92 percent), ataxia (77 percent), Stage II coma (46 percent), delayed physical growth (38 percent), developmental delay (38 percent), and seizures (23 percent). Including the proband, 42 percent of the female members of the 13 families studied had symptoms. The median interval between the onset of major symptoms (vomiting and lethargy, seizures, and coma) and diagnosis was 16 months (range, 1 to 142). Five patients had IQ scores below 70 at the time of diagnosis. We suggest that careful evaluation of the family history, the dietary history, the episodic nature of the nonspecific symptoms, the response of these symptoms to the withdrawal of protein, and their frequent onset at the time of weaning from breast milk will permit early diagnosis and might thereby reduce the risk of death or neurologic impairment in female patients with partial ornithine transcarbamylase deficiency.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
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