Spontaneous shaker rat mutant – a new model for X-linked tremor-ataxia
نویسندگان
چکیده
منابع مشابه
Early Onset of Fragile X Associated Tremor and Ataxia Syndrome: A Case Report from Iran
Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults. Case Presentatio...
متن کاملFragile X-associated tremor/ataxia syndrome.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a hereditary neurodegenerative disorder caused by a mutation on the X chromosome. The major signs and symptoms are tremor, ataxia and parkinsonism. Up to one in 2 000 persons over 50 years of age will develop the syndrome. There is reason to believe that too few individuals in Norway undergo testing for this condition.
متن کاملFragile X-associated tremor/ataxia syndrome (FXTAS).
Carriers of fragile X mental retardation 1 (FMR1) premutation alleles (55 to 200 CGG repeats) are generally spared the more serious neurodevelopmental problems associated with the full-mutation carriers (>200 repeats) of fragile X syndrome. However, some adult male premutation carriers (55-200 repeats) develop a neurological syndrome involving intention tremor, ataxia, dementia, parkinsonism, a...
متن کاملThe fragile X-associated tremor ataxia syndrome.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder clinically characterized by intention tremor and gait ataxia, in addition to other conditions including hypothyroidism, autonomic dysfunction, hypertension, peripheral neuropathy, and cognitive decline. FXTAS affects some males (approximately 40%) and in less degree female premutation carriers (8-16...
متن کاملSpontaneous Intracranial Hypotension Associated with Kinetic Tremor and Ataxia
BACKGROUND Spontaneous intracranial hypotension (SIH) is a clinically variable syndrome caused by low cerebrospinal fluid (CSF) pressure due to a non-traumatic CSF leak. PHENOMENOLOGY SHOWN This case describes a 68-year-old gentleman who presents with chronic and slightly progressive kinetic tremor of bilateral hands associated with gait ataxia and gait start hesitation. EDUCATIONAL VALUE T...
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ژورنال
عنوان ژورنال: Disease Models & Mechanisms
سال: 2016
ISSN: 1754-8411,1754-8403
DOI: 10.1242/dmm.022848