Adrenoleukodystrophy manifesting as spinocerebellar degeneration.
نویسندگان
چکیده
X-linked adrenoleukodystrophy (XALD) is an inherited disorder of peroxisomal metabolism. Atypical presentations have been occasionally reported in literature. However, extrapyramidal and cerebellar manifestations are distinctly rare. We report a patient of X-linked adrenoleukodystrophy with cranial and cervical dystonia and neurological presentation resembling spinocerebellar degeneration followed by a brief review of relevant literature.
منابع مشابه
Familial spinocerebellar degeneration as an expression of adrenoleukodystrophy.
A family with adrenoleukodystrophy and clinical manifestations of spinocerebellar degeneration was studied. Two adult male first cousins showed progressive limb and truncal ataxia, slurred speech and spasticity of the extremities. Brain CT scans demonstrated atrophy of the pons and cerebellum, in both cases. Very long chain fatty acids in plasma and erythrocyte membranes were elevated in the af...
متن کاملScanning electron microscopy studies of erythrocytes in spinocerebellar degeneration.
Spinocerebellar degeneration is a heredofamilial disease of unknown aetiology. The shape of erythrocytes as revealed by scanning electron microscopy was studied in this disease. Echinocytes I, as defined by Bessis, were seen more frequently in spinocerebellar degeneration than in age and sex matched controls (7.2 +/- 1.5% in spinocerebellar degeneration, 3.4 +/- 1.2% in controls, p less than 0....
متن کاملMR findings in adult-onset adrenoleukodystrophy.
PURPOSE To describe the MR findings of brain and spinal cord in adult-onset adrenoleukodystrophy. METHODS One hundred sixty-four adult patients ranging from 19 to 74 years of age (119 men and 45 women) with clinically and biochemically proved adrenoleukodystrophy underwent MR of the brain. In 30 patients the spinal cord also was evaluated with MR. RESULTS The brain MR findings were abnormal...
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متن کامل[Neurorehabilitation for spinocerebellar degeneration].
It remains to be elucidated whether there is a use- or dose-dependent effect of rehabilitative intervention on impairment and disability of spinocerebellar degeneration since the disease progressively damages cerebellar structure that plays a crucial role in motor learning. Moreover there is a trade-off between functional improvement after rehabilitation and functional deterioration due to dise...
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ورودعنوان ژورنال:
- Neurology India
دوره 54 2 شماره
صفحات -
تاریخ انتشار 2006