Urodynamic Evaluation of Patients with Hereditary Ataxias
نویسندگان
چکیده
منابع مشابه
Genetics of ataxias: hereditary forms.
WHAT ARE HEREDITARY ATAXIAS? Ataxia is a neurologic disorder in which there is loss of coordination of movement. It can result from dysfunction of the cerebellum and brain stem and their afferent or efferent pathways. The etiology of ataxia can be divided into 3 main categories: acquired, sporadic, and hereditary. Hereditary ataxias are one of the largest groups of hereditary progressive neurod...
متن کاملGENETICS VIGNETTE Genetics of Ataxias: Hereditary Forms
What are Hereditary Ataxias? Ataxia is a neurologic disorder in which there is loss of coordination of movement. It can result from dysfunction of the cerebellum and brain stem and their afferent or efferent pathways. The etiology of ataxia can be divided into 3 main categories: acquired, sporadic, and hereditary. Hereditary ataxias are one of the largest groups of hereditary progressive neurod...
متن کاملA clinical classification of hereditary ataxias.
We present a working and flexible classification of inherited ataxic syndromes based on the use of simple tools available to every clinician: a good history (particularly pinpointing the age of onset, the rate of progression and the mode of inheritance) and a neurological examination (identifying the presence of ataxia, deep tendon reflexes in the knee, optic nerve, retinal and/or 8th nerve sig...
متن کاملGenes and Genetic Testing in Hereditary Ataxias
Ataxia is a neurological cerebellar disorder characterized by loss of coordination during muscle movements affecting walking, vision, and speech. Genetic ataxias are very heterogeneous, with causative variants reported in over 50 genes, which can be inherited in classical dominant, recessive, X-linked, or mitochondrial fashion. A common mechanism of dominant ataxias is repeat expansions, where ...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 1982
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s031716710004381x