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

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

In a retrospective study of 4,294 consecutive postmortem cases, there were 15 with histologically proved sarcoidosis, including 4 with CNS involvement. Whereas in previously reported autopsy series the prevalence of neurosarcoidosis was 15%, it is 27% in this review. Five cases with incidental, clinically inapparent sarcoidosis died at a mean age of 54.6 years; those six with systemic sarcoidosis, not involving the CNS, died at a mean age of 47.0 years; while those four with a variety of neurologic manifestations in addition to systemic sarcoidosis died at a mean age of 38.2 years. Thus, it appears that at one end of the spectrum of morbidity, sarcoidosis may cause no or only trivial symptoms and permit prolonged survival. At the other extreme, sarcoidosis may affect a younger population more severely. CNS involvement occurs relatively early in the course and its rather rapidly progressive, accounting for the poor prognosis, despite appropriate medical and neurosurgical management. In its turn, neurosarcoidosis may present with a variety of signs and symptoms, depending on the site of involvement along the craniospinal axis. This feature is illustrated by the manifestations of compression myelopathy, hydrocephalus with dementia, hydrocephalus with seizures and ataxia, and anosmia, blindness, seizures, and diabetes insipidus. In addition, one patient developed a Nocardia brain abscess as a complication of the altered immune system in sarcoidosis.
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PMID:Pathobiology of neurosarcoidosis and clinicopathologic correlation. 683 29

Superficial siderosis is a rare condition characterized by deposition of hemosiderin in the leptomeninges and in the subpial layers of the brain and spinal cord. It is associated with cerebrospinal fluid abnormalities consistent with recurrent bleeding into the subarachnoid space. The usual symptoms are hearing loss, ataxia, spastic paraparesis, sensory and sphincter deficits, and mental deterioration. A case is presented of severe superficial siderosis of the central nervous system in a 51-year-old man who had suffered a brachial plexus injury at the age of 20 years. The diagnosis was made by means of magnetic resonance imaging 16 years after the initial symptoms, which comprised bilateral hearing loss and anosmia. Subarachnoid bleeding was due to traumatic pseudomeningocele of the brachial plexus, a very unusual cause of superficial siderosis. This case is interesting insofar as the surgical treatment prevented further bleeding and possibly progression of the disease.
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PMID:Superficial siderosis of the central nervous system after brachial plexus injury. Case report. 816 38

Wolfram's syndrome, also known as DIDMOAD syndrome, includes juvenile diabetes mellitus and optic atrophy variously associated with diabetes insipidus and deafness. We describe the neurological findings in 5 patients with Wolfram's syndrome. All patients had a neurological examination and were subjected electrophysiological and brain imaging including CT scan and, in one patient, MRI. There were two pairs of brothers and a sporadic case with paternal consanguinity suggesting recessive inheritance. Neurological abnormalities were found in four patients including dysarthria, seizures, anosmia, nystagmus, ataxia and changes in the electroencephalograms, electroretinograms and evoked potentials. In contrast with previous reports, four patients had abnormal brain CT scan with prominent atrophy of the brainstem. In the patient studied with NMR, severe brainstem and cerebellar atrophy was found. These neuroradiological findings are reminiscent of those described in olivopontocerebellar atrophy and are in agreement with previous pathological studies. We conclude that Wolfram's syndrome includes phenotypical manifestations of olivopontocerebellar atrophy. This reinforces the opinion that olivopontocerebellar atrophy is a nonspecific syndrome of varied causes.
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PMID:[Neurologic manifestations in Wolfram's syndrome]. 833 58

Wolfram syndrome was originally described as a combination of familial juvenile-onset diabetes mellitus and optic atrophy. Other neurological features subsequently emerged, and "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) became a commonly accepted acronym. Here, we describe 4 further cases from 2 families, in whom there occurred previously unrecognized neurological features, central apnea and neurogenic upper airway collapse, together precipitating primary respiratory failure (fatal in 1 case), startle myoclonus (in 2 unrelated cases), axial rigidity, and Parinaud's syndrome. Magnetic resonance images revealed striking brainstem atrophy affecting, in particular, the pons and midbrain. The mitochondrial DNA from 3 cases (and relatives) showed no evidence of any of the previously reported abnormalities. These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.
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PMID:Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy. 860 54

Two cases (case 1, a 45-year-old man; case 2, a 68-year-old man) of superficial siderosis of the central nervous system are presented. Main neurological symptoms were anosmia, sensorineural deafness, dysarthria, ataxia, and pyramidal tract signs. Lumbar puncture revealed bloody cerebrospinal fluid (CSF) in both cases. In case 1, the CSF became watery clear after administration of hemostatic medicines. T2-weighted magnetic resonance images showed cerebellar atrophy and marginal hypointensity of the brainstem, cerebellum, and the entire spinal cord. T2-weighted images of the cranial nerves showed hypointensity of the VIII nerves which were clinically impaired as compared with normointensity of the VII nerves which presented no clinical symptom. These findings may reflect difference in the degree of hemosiderin depostion between the VII and VIII nerves. While case 1 had a borderline score of WAIS-R (IQ79), case 2 showed overt dementia (performance IQ65). Positron emission tomography showed that cerebral blood flow and cerebral oxygen metabolism were reduced in the basal temporal lobes in both cases.
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PMID:[Two cases of superficial siderosis of the central nervous system. Findings of the cerebrospinal fluid, magnetic resonance imaging and positron emission tomography]. 882 97

Two patients with superficial siderosis of the central nervous system are reported. Both developed progressive deafness over many years; one with associated anosmia and partial seizures; the other with progressive ataxia and diplopia. The cerebrospinal fluid was xanthochromic in one and the protein was raised in both. Magnetic resonance imaging revealed a hypodense rim around the eighth cranial nerve, cerebellum, brain stem and spinal cord. Despite extensive investigations the cause of the superficial siderosis in both patients remains undetermined.
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PMID:Superficial siderosis of the central nervous system. 882 23

Refsum's disease is an autosomal recessive disease caused by defective alpha-oxidation of phytanic acid. The usual clinical presentation is the association of retinitis pigmentosa, ataxia and chronic severe sensorimotor polyneuropathy. A case of mild purely sensory neuropathy in a 40-year-old patient associated to high CSF protein level led to the diagnosis of Refsum's disease. The paucity of sensory symptoms and signs of neuropathy contrasted with severe reduction of motor and sensory nerve conduction velocities and markedly signs of sensory neuropathy observed in the nerve biopsy. Typical ring-scotomas, retinitis pigmentosa, anosmia, deafness, and high plasma phytanic acid level were present in extensive examination. There was no other case in the family.
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PMID:[Pauci-symptomatic sensory polyneuropathy in Refsum's disease]. 894 45

A 58-year-old woman developed slowly progressive hearing loss, anosmia, and unsteady gait. She had neither repeated episode of headache nor a past history of neurosurgical operation or head injury. Neurological examination revealed anosmia, moderate degree of sensorineural hearing loss. She showed loss of caloric response bilaterally. No nystagmus was found. Romberg sign was present. No cerebellar ataxia was noted in the finger-to-nose or the heel-to-knee test. No adiadochokinesis was noted. Deep tendon reflexes were increased in both upper and lower extremities. Sensation was intact. She showed disturbance of the righting reflex in the tilt-table examination. CSF were under normal pressure, xanthochromic with siderophages. CSF total protein and ferritin level were elevated. T2-weighted image (TE4000/TR100) of high field strength magnetic resonance imaging (MRI) showed marginal hypointensity of the brain stem, the Sylvian fissures, the tips of temporal lobes, anterior cerebellar surfaces and the entire spinal cord. Angiography of the cerebral vessels and spinal arteries failed to identify the source of bleeding. It seemed likely that she had lost bilateral vestibular and auditory functions caused by hemosidelin deposition to her eighth nerves which are often affected by this disorder. Her disturbance of gait and station was apparently similar to cerebellar ataxic gait, however, she did not have limb ataxia. The electronystagmogram revealed marked degree of vestibular dysfunction (VOR) and relative sparing of cerebellar function (OKN). Her disturbance of the righting reflex in the tilt-table examination and the characteristic feature of her Romberg sign with directional preponderance also indicate that the bilateral loss of vestibular functions, i.e., vestibular ataxia caused her dysequilibrium syndrome. It is our impression that vestibular ataxia might precede cerebellar ataxia commonly reported so far.
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PMID:[A case of superficial siderosis of the central nervous system with bilateral vestibular dysfunction]. 936 92

Thirty-three patients (29 male, 4 male) were examined 4 and 8 years after severe head injury. The patients underwent a detailed neurological examination. A semistructured interview according to the Glasgow Assessment Schedule was administered to the patients and their relatives. Most frequent neurological features were motor deficits (55%, at both follow-up investigations, mostly monoparesis), dysarthria (39% versus 33%), ataxia (49% versus 39%) and anosmia (46% versus 33%) at 4 and 8 years, respectively. There was a slight, but not significant improvement between the 2 examinations with respect to frequency and severity of neurological impairment. There was no significant improvement in the activities of daily living and 18% remained totally dependent on other people's help. At both follow-ups 85% complained of memory deficits. 67% and 70% respectively, suffered from poor initiative and increasing irritability at the first and second examination. The patients were more socially isolated and more irritable at the second follow-up. Only 12% and 18%, respectively held the same job as they had had before the injury; nearly half of them had retired. Occupational and psychosocial reintegration appeared to be rather poor in many patients. Excessive alcohol intake prior to trauma was identified as a person-related predictive factor. In contrast to other studies we found persistent, although slight neurological deficits. In the long-term, a combination of neurological and neuropsychological deficits seems to contribute to residual handicap.
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PMID:[Neurological and psychosocial sequelae 4 and 8 years after severe craniocerebral injury: a catamnestic study]. 961 41


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