Elemental deficits underlying cerebellar ataxia
نویسندگان
چکیده
منابع مشابه
A new Kv1.2 channelopathy underlying cerebellar ataxia.
A forward genetic screen of mice treated with the mutagen ENU identified a mutant mouse with chronic motor incoordination. This mutant, named Pingu (Pgu), carries a missense mutation, an I402T substitution in the S6 segment of the voltage-gated potassium channel Kcna2. The gene Kcna2 encodes the voltage-gated potassium channel α-subunit Kv1.2, which is abundantly expressed in the large axon ter...
متن کاملAcute cerebellar ataxia.
Acute cerebellar ataxia occurring in childhood is a definite clear-cut syndrome, yet only three cases appear to have been reported in the British literature (Batten, 1907; Taylor, 1913), although more recently cases with similar features have been included in wider surveys on encephalitis by Brewis (1954) and on ataxia by Shanks (1950). Typically the clinical picture is characterized by the sud...
متن کاملA case of Cerebellar Ataxia
The patient denied any headaches, vertigo, weakness, confusion, bowel or bladder dysfunction and the unsteadiness was independent of position. Bowel movements were normal and he reported no other symptoms of abdominal pathology. The patient drank on average 10 units of alcohol a week and reported no recent increase in consumption. He was a life-long non-smoker, and denied any recent symptoms of...
متن کاملLocomotor patterns in cerebellar ataxia.
Several studies have demonstrated how cerebellar ataxia (CA) affects gait, resulting in deficits in multijoint coordination and stability. Nevertheless, how lesions of cerebellum influence the locomotor muscle pattern generation is still unclear. To better understand the effects of CA on locomotor output, here we investigated the idiosyncratic features of the spatiotemporal structure of leg mus...
متن کاملCerebellar ataxia with progressive improvement.
BACKGROUND Nonprogressive cerebellar ataxias are characterized by a persistent, nonprogressive ataxia associated with cognitive impairment. Cerebellar hypoplasia on imaging is variable but is not predictive of the degree of ataxia or cognitive impairment. OBJECTIVE To describe a family with a nonprogressive cerebellar ataxia associated with cognitive and motor impairments that improve with ag...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Rinsho Shinkeigaku
سال: 2009
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.49.401