A practical approach to diagnosing adult onset leukodystrophies.
نویسندگان
چکیده
To cite: Ahmed RM, Murphy E, Davagnanam I, et al. J Neurol Neurosurg Psychiatry 2014;85: 770–78
منابع مشابه
Imaging of adult leukodystrophies Imagem nas leucodistrofias do adulto
Leukodystrophies are genetically determined white matter disorders. Even though leukodystrophies essentially affect children in early infancy and childhood, these disorders may affect adults. In adults, leukodystrophies may present a distinct clinical and imaging presentation other than those found in childhood. Clinical awareness of late-onset leukodystrophies should be increased as new therap...
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PURPOSE OF REVIEW Knowledge of the metabolic and genetic basis of known and previously unknown leukodystrophies is constantly increasing, opening new treatment options such as enzyme replacement or cell-based therapies. This brief review highlights some recent work, particularly emphasizing results from studies in adulthood leukodystrophies. RECENT FINDINGS Evidence from recent studies sugges...
متن کاملLeukodystrophies: classification, diagnosis, and treatment.
BACKGROUND The leukodystrophies are a heterogeneous group of diseases, which primarily affect white matter. Symptomatic patients are frequently misdiagnosed and the leukodystrophies are collectively under recognized. However, with ongoing research and increased availability of neuroimaging, our understanding of these diseases is increasing at a steady rate. Recent advances in the diagnosis and ...
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Adrenoleukodystrophy (ALD) is an X-linked inherited metabolic disease associated with the accumulation of very long chain fatty acids (VLCFA) in the nervous system, adrenal cortex, and testes. At least seven phenotypes can be distinguished, which are Addison only, childhood, adolescent and adult cerebral ALD, adrenomyeloneuropathy (AMN), and symptomatic or asymptomatic carriers. Children most o...
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IMPORTANCE The leukodystrophies comprise a clinically and genetically heterogeneous group of progressive hereditary neurological disorders mainly affecting the myelin in the central nervous system. Their onset is variable from childhood to adulthood and presentation can be with a variety of clinical features that include mainly for adult-onset cases cognitive decline, seizures, parkinsonism, mu...
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 85 7 شماره
صفحات -
تاریخ انتشار 2014