1/63. Successful immunosuppressant therapy of severe progressive cerebellar degeneration and sensory neuropathy: a case report.A 56 year old woman had a 19 month history of a severe subacute progressive cerebellar degeneration, peripheral sensory neuropathy, and urinary incontinence. She was confined to a wheelchair, needed assistance with eating, and her speech was almost unintelligible. No underlying cancer was found despite repeated investigations, and no autoantibodies were demonstrated. She received a 3-month course of intensive immunosuppressant therapy with intravenous immunoglobulin 400 mg/kg per day for 5 days every month, oral cyclophosphamide 50 mg twice or three times a day to maintain the total lymphocyte count between 500 and 750/mm(3), and prednisone 60 mg per day. She experienced dramatic subjective and objective improvement. The dysarthria and the upper extremity dysmetria disappeared, and she regained the ability to write and cook. The lower extremity ataxia improved and she became able to walk with a cane. urinary incontinence disappeared. A trial of intensive immunosuppressant treatment is worth considering in a patient with a clinical syndrome resembling paraneoplastic disorders, even if an underlying neoplasm and autoantibodies are not demonstrated.- - - - - - - - - - ranking = 1keywords = cancer, neoplasm (Clic here for more details about this article) |
2/63. A case of spinocerebellar ataxia accompanied by severe involvement of the motor neuron system.We report a sporadic case of spinocerebellar ataxia accompanied by later but severe involvement of the motor neuron system. A 72-year-old man began to show ataxia and dysarthria at age 66 years. Neurological examinations revealed saccadic eye movement, slurred speech, truncal ataxia, pyramidal sign, and urinary disturbance. Neither history of alcoholism nor hereditary factors were found. He developed muscular atrophy of the lower and upper extremities and limb ataxia within three years. Superficial and deep sensations were diminished in both feet four years after onset. Thus, he presented with cerebellar ataxia, bulbar sign, upper and lower motor neuron symptoms, sensory disturbance, and autonomic sign after six years at age 72. The level of serum, creatine phosphokinase (CPK) was increased, and muscle biopsy showed marked neurogenic change. magnetic resonance imaging (MRI) revealed mild cerebellar and pontine atrophy. Although the combination of spinocerebellar ataxia and motor neuron disease is very rare, the present case suggests the inter-relation of the spinocerebellar and motor neuron systems, and presents peripheral neuropathy as a subtype of multisystem atrophy.- - - - - - - - - - ranking = 18.123693504526keywords = muscle (Clic here for more details about this article) |
3/63. 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 = 18.123693504526keywords = muscle (Clic here for more details about this article) |
4/63. Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.We report on the molecular characterization of a translocation t(1;19)(q21.3;q13.2) in a female with mental retardation, ataxia and atrophy of the brain. sequence analysis of the breakpoints revealed an ALU:-repeat-mediated mechanism of recombination that led to truncation of two genes: the kinase CLK2 and PAFAH1B3, the gene product of which interacts with LIS1 as part of a heterotrimeric G protein complex PAF-AH1B. In addition, two reciprocal fusion genes are present. One expressed fusion gene encodes the first 136 amino acids of PAFAH1B3 followed by the complete CLK2 protein. Truncated PAFAH1B3 protein lost its potential to interact with LIS1 whereas CLK2 activity was conserved within the fusion protein. These data emphasize the importance of PAF-AH1B in brain development and functioning and demonstrate the first fusion gene apparently not associated with cancer.- - - - - - - - - - ranking = 0.92741663944366keywords = cancer (Clic here for more details about this article) |
5/63. Mitochondrial myopathy presenting as ataxia with dilated cardiomyopathy.Mitochondrial disorders are multisystem diseases with very heterogeneous clinical manifestations. Common cardiac features include cardiomyopathy and conduction defects. We report a five-year-old boy who presented with signs of congestive cardiac failure and was diagnosed to have dilated cardiomyopathy. Six months later, he developed progressively worsening ataxia, hypotonia, other cerebellar signs, hearing loss, severe sensory peripheral neuropathy and lactic acidosis. Electronmicroscopy of skeletal muscle biopsy was consistent with mitochondrial myopathy.- - - - - - - - - - ranking = 18.123693504526keywords = muscle (Clic here for more details about this article) |
6/63. Ataxic form of chronic inflammatory demyelinating polyradiculoneuropathy: clinical features and pathological study of the sural nerves.We investigated clinical and pathological features of the sural nerves of 5 patients with the ataxic form of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and compared these features with those of chronic ataxic neuropathies due to other causes. The CIDP patients presented with slowly progressive ataxia with deep sensory impairment. The durations of the symptoms from onset were relatively short in CIDP (4-8 months) and cancer (3 and 10 months), but long in chronic idiopathic ataxic neuropathy (24-260 months). Corticosteroid therapy elicited a good response in all the patients with CIDP, but a poor response in the patients with other ataxic neuropathies. sural nerve biopsy of CIDP patients showed a slight or moderate loss of myelinated fiber. This report suggests that ataxic form of CIDP is a steroid-responsive ataxic neuropathy, and large myelinated fibers of the sural nerves in ataxic form of CIDP were better preserved than those in nerves with other chronic ataxic neuropathies.- - - - - - - - - - ranking = 0.92741663944366keywords = cancer (Clic here for more details about this article) |
7/63. Oculopalatal tremor with tardive ataxia.Oculopalatal tremor consists of palatal tremor and pendular nystagmus and may develop in a delayed fashion after an acute brainstem lesion. Delayed sequelae are generally restricted to the eyes and branchial-derived muscles, such as those of the palate. We report three cases of oculopalatal tremor that subsequently developed disabling delayed-onset ataxia and emphasize the potential for this significant complication after larger bilateral acute brainstem lesions with sparing of the inferior olive.- - - - - - - - - - ranking = 18.123693504526keywords = muscle (Clic here for more details about this article) |
8/63. Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.PURPOSE: To report a late-onset cone-rod dystrophy that revealed a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome as a consequence of the T8993G mitochondrial mutation. methods: Observational case series. A 42-year-old female disclosed a late-onset retinal dystrophy. The family history revealed that her three sons, one of them deceased at the age of 4, had mental and neurologic impairment of variable severity. The retinal dystrophy of the mother was classified as a cone-rod dystrophy. Retinal dystrophy was subsequently diagnosed in the two surviving sons. Screening for mutation in the mitochondrial dna (mtDNA) was performed because of the combination of neurologic involvement and retinal dystrophy in this family. RESULTS: Molecular analysis of the mtDNA revealed the ATPase-6 gene T8993G mutation in the mother and the two sons. CONCLUSION: This family illustrates the remarkably variable expression of retinal and systemic manifestations related to the T8993G mutation ranging from an isolated late-onset cone-rod dystrophy to a severe neurodegenerative process with a dramatic outcome. genetic counseling for retinal dystrophies requires careful evaluation of the familial medical history.- - - - - - - - - - ranking = 90.618467522632keywords = muscle (Clic here for more details about this article) |
9/63. Clinical, electrophysiological, and serological overlap between miller fisher syndrome and acute sensory ataxic neuropathy.We report a patient with severe sensory ataxia, areflexia, and ophthalmoplegia with preservation of limb muscle strength. Electrophysiological examinations revealed peripheral sensory nerve involvement. A serological examination showed the elevation of IgG antibodies to various b-series gangliosides as well as GT1a. These indicated that this case is an overlap between acute sensory ataxic neuropathy and miller fisher syndrome. Autoantibody is implicated as potential pathogenic agents in some cases of acute sensory ataxic neuropathy.- - - - - - - - - - ranking = 18.123693504526keywords = muscle (Clic here for more details about this article) |
10/63. Occult small cell lung cancer associated with paraneoplastic neurologic syndrome: case report.Cancer is often associated with paraneoplastic syndromes, which may be misinterpreted. We report a case of a patient with occult small cell lung cancer that was initially compounded by clinical features of a paraneoplastic neurologic syndrome. The presence of antineuronal antibodies and positron emission tomography scan guided the search for the underlying tumor. Following chemo-radiotherapy the patient showed no evidence of disease for the next 18 months, whereas only a slight improvement in the neurologic disorders was observed. The course of the small cell lung cancer was very indolent and the paraneoplastic neurologic syndrome did not worsen with the use of cisplatin.- - - - - - - - - - ranking = 5.5644998366619keywords = cancer (Clic here for more details about this article) |
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