What is ataxia? -Towards developing a new scale for ataxia
نویسندگان
چکیده
منابع مشابه
A Case Study of Ataxia Teilangiectasia Associated with Hodgkin Diease
A case of ataxia telangiectasia in a 7 year-old boy associated with Hodgkin disease was presented. Abnormalities of motion along with repeated respiratory tract infections requiring hospitalization started when he was 2 years old. The patient was placed on MOPP protocol Hodgkin treatment in addition to replacement therapy as advised.
متن کاملA 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 کاملCerebellar ataxia with spasmodic cough: a new form of dominant ataxia.
BACKGROUND Although mentioned in most series, "pure" autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on clinical grounds. OBJECTIVE To describe Portuguese families with a peculiar pure form of dominant ataxia that, to our knowledge, has never been documented before and in which cerebellar signs are preceded by spasmodic cough. PATI...
متن کاملA cause for childhood ataxia
Genetic studies uncover a mutation in a widely conserved protein as the cause of a neurological disorder in two brothers.
متن کاملAtaxia telangiectasia: a review
DEFINITION OF THE DISEASE Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and ...
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: 2012
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.52.988