Epidemiology of inherited cerebellar ataxias and challenges in clinical research
نویسندگان
چکیده
منابع مشابه
Degenerative Ataxias: challenges in clinical research
The degenerative ataxias are a very heterogeneous group of disorders that include numerous genetic diseases as well as apparently "sporadic" entities. There has been an explosion of discoveries related to genetic defects and related pathomechanisms that has brought us to the threshold of meaningful therapies in some but not all of these diseases. There also continues to be lack of knowledge of ...
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We analysed the clinical features of 82 patients with dominantly inherited ataxia in a cohort survey. All patients fulfilled the diagnostic criteria for Machado-Joseph disease. The mean age of onset of symptoms was 39.8 (+/- 12.5) years and the duration of the disease was 9.2 (+/- 6.7) years. Ataxia, peripheral neuropathy, and fasciculation scores correlated with age of onset and duration of di...
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Among the hereditary ataxias, autosomal recessive spinocerebellar ataxias comprise a diverse group of neurodegenerative disorders. Clinical phenotypes vary from predominantly cerebellar syndromes to sensorimotor neuropathy, ophthalmological disturbances, involuntary movements, seizures, cognitive dysfunction, skeletal anomalies, and cutaneous disorders, among others. Molecular pathogenesis also...
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Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of evidence has demonstrated a high frequency of non-motor manifestations in cerebellar ataxias, specially in autosomal dominant spinocerebellar ataxias (SCA). Among these non-motor dysfunctions, sleep disorders have been recognized, although stil...
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Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This g...
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ژورنال
عنوان ژورنال: Clinical and Translational Neuroscience
سال: 2018
ISSN: 2514-183X,2514-183X
DOI: 10.1177/2514183x18785258