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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 19-year-old woman with long-standing sensorineural deafness, bilateral cataracts and mild clumsiness, presented with acute focal edema in the left temperoparieto-occipital area which required surgical decompression as a life-saving measure. Investigation revealed a persistent lactic acidemia and evidence of many ragged red fibres in a skeletal muscle biopsy specimen, suggesting a diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. The patient developed two further stroke-like episodes over a short period. One sibling died at the age of 14 years with a progressive neurological illness characterised by seizures, bilateral optic atrophy, ataxia, myoclonus and progressive dementia. The diagnosis of MELAS syndrome should be considered in young people presenting with stroke-like episodes that fail to conform to a given vascular territory, particularly if they have long-standing minor neurological abnormalities or a family history of obscure early onset neurological disease. The different clinical pictures in the two affected siblings in this family suggest that MELAS syndrome is part of a spectrum of inherited mitochondrial cytopathies rather than a discrete disease entity.
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PMID:Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema. 339 2

We describe an X-linked disorder of the CNS, characterized by onset, in infancy, of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropias, and optic atrophy, and by a progressive course leading to death in childhood. Pathologically, neuron loss and gliosis of the dentate nucleus and inferior olive are conspicuous; involvement of the cerebellar cortex is less prominent. In the proband, the red nucleus, dorsal motor nucleus of the vagus, and central auditory pathways were severely affected. The mother of the proband, now 33, has self-limited episodes of ataxia, and cerebellar atrophy for which no other cause is apparent. The unique heredity, pathology, and clinical picture distinguish this entity from previously described inherited or metabolic ataxias.
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PMID:Infantile X-linked ataxia and deafness: a new clinicopathologic entity? 361 54

Xeroderma pigmentosum is an unusual neurocutaneous disorder. Recent studies have classified patients with xeroderma pigmentosum into 10 groups by somatic cell hybridization methods. In this report we describe 32 patients with Group A xeroderma pigmentosum, including 1 patient with an atypical case, who were assessed for neurological complications. Of these patients, 17 had microcephaly, 13 short stature, and 21 mental retardation. In patients over 7 years of age, sensorineural deafness and spinocerebellar signs such as nystagmus, dysarthria, tremor, and ataxia were frequently observed; no patients below 7 years of age had such neurological complications. Electroencephalographic studies revealed abnormal slow and low voltage background activity. Two patients had focal abnormal discharges, one of whom developed versive seizures. Cranial computed tomographic scans revealed abnormalities, including ventricular dilatation, cerebral atrophy, cerebellar and brainstem atrophy, and cranial bone thickening. A patient with an atypical case of Group A xeroderma pigmentosum had less skin and neurological involvement, and higher levels of postultraviolet colony-forming ability and host cell reactivation than did a typical Group A case. It is possible that these less severe cytological findings are responsible for the less severe skin lesions and neurological complications noted clinically.
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PMID:Neurological manifestations in xeroderma pigmentosum. 374 Aug 15

A 4 year old girl with congenital nerve deafness and pancreatic insufficiency had incapacitating ataxia. Electrophysiological studies of the median nerve and the brain stem evoked response were abnormal. Serum vitamin E concentration was low. After intramuscular injections of vitamin E the ataxia disappeared and electrophysiological variables reverted to normal.
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PMID:Hypovitaminosis E induced neuropathy in exocrine pancreatic failure. 376 19

The clinical features of 66 patients with histologically defined mitochondrial myopathy are described. The age of onset of symptoms ranged from birth to 68 years, but was before 20 years in 61%. Nineteen patients had similarly affected relatives. Three groups of cases could be identified clinically: a combination of progressive external ophthalmoplegia and weakness of the limbs induced or increased by exertion (55%); such limb weakness alone (18%); and those with clinical features, such as ataxia, dementia, deafness, involuntary movements and seizures, predominantly or exclusively arising from the CNS (27%). There was considerable overlap between these groups, and pigmentary retinopathy, present in 36% of patients, occurred in all three. At a mean disease duration of twenty years, 9 patients (all from Group 3) were severely disabled but 42 were still able to work. In vitro studies of mitochondrial metabolism, performed in 33 cases, most commonly showed deficiencies of the mitochondrial respiratory chain localized to complex I (18 patients) or complex III (9). No typical clinical picture emerged for any of the identifiable biochemical defects.
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PMID:The clinical features of mitochondrial myopathy. 377 73

Two brothers aged 75 and 61 years, born from non-consanguineous non-affected parents, had spinocerebellar ataxia and impaired proprioception in the lower limbs, associated with sensorineural deafness, amyotrophy of the hands and spastic paraparesis. The older patient also had vitiligo of the right hand, and both displayed likely dysendocrine features. The disease was present since the second-third decade and showed a slow course. An EMG confirmed a neurogenic disorder strictly localized to the distal upper limbs. This new phenotype of heredoataxia is compared with previously reported similar syndromes and, in particular, with diseases featuring localized amyotrophy of the hands.
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PMID:Spinocerebellar ataxia associated with localized amyotrophy of the hands, sensorineural deafness and spastic paraparesis in two brothers. 395 22

An own observation of Refsum's disease is described. The female patient of 39 presented all characteristic symptoms of the disease, which had developed progressively starting at the age of 25: atypical retinitis pigmentosa with nightblindness and concentric constriction of the visual fields, cataracts, peripheral polyneuropathy with reduced nerve conduction velocity, ataxia, high protein level in CSF, ichthyosis-like cutaneous manifestations, sceletal anomalies, progressive sensorineural deafness, anosmia. Refsum's disease is a metabolic disorder based on an inborn enzyme defect, inherited by autosomal recessive transmission. It causes storage of phytanic acid in the body. Treatment consists in diet low in phytol and phytanic acid as well as large volume plasma exchanges.
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PMID:[Refsum syndrome, heredopathia atactica polyneuritiformis in the view of the otolaryngologist (author's transl)]. 616 93

The clinical features of four patients with retinitis pigmentosa, ataxia and peripheral neuropathy but with no increase in serum phytanic acid are reported. Three patients also had sensorineural deafness and radiological evidence of cerebellar atrophy. Nerve conduction studies revealed abnormalities of sensory conduction and normal or only mild slowing of motor conduction velocity. Sural nerve biopsy demonstrated a reduction in the density of myelinated fibres. There were no onion bulb formations. These cases clinically resemble Refsum's disease, but differ in having no detectable biochemical abnormality, and a peripheral neuropathy which is not hypertrophic in type. They may represent unusual cases of spinocerebellar degeneration.
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PMID:Retinitis pigmentosa, ataxia, and peripheral neuropathy. 630 25

A series of 72 patients with typical trigeminal neuralgia who underwent microsurgical exploration of the trigeminal nerve in the posterior fossa is analyzed. The operations were performed between 1977 and 1980 with an average follow-up period of 4.94 years. Seventy-eight percent of the patients have remained free of pain after the operation. Of the 16 patients (22%) that were either not relieved of their pain or had a recurrence, two are well-controlled with medical treatment and the rest have required a variety of surgical procedures (mostly radiofrequency rhizotomy) for pain relief. Recurrences were significantly more common in females. There was no relationship between recurrence rate and the age of the patient or the duration of the symptoms before surgery. Definite compression of the trigeminal nerve at the root entry zone by an arterial loop singly or in combination with other arteries or a vein was found in 82% of the patients. The recurrence rate in this group was 19%. Definite compression by a vein was found in seven patients and the pain recurred in four (47%), a significant difference. There was no death or disabling stroke in this series, but persistent unilateral hearing loss occurred in a total of 14 patients (19%), with complete deafness in the ipsilateral ear in five patients (7%). In addition, two patients suffered mild but persistent ataxia of gait and two patients intermittent diplopia. These results are compared with the results of other reported series.
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PMID:Microvascular decompression for trigeminal neuralgia. A five-year follow-up study. 646 31

A 50-year-old man presented with bilateral deafness and ataxia of sudden onset and without constitutional symptoms or signs of meningeal irritation. He was subsequently proved to have meningococcal meningitis, and the deafness and ataxia resolved following appropriate antibiotic therapy.
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PMID:Meningococcal meningitis presenting with bilateral deafness and ataxia. 649 87


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