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...

PURPOSE To report the MR and CT findings in a hereditary disease, infantile-onset spinocerebellar ataxia (IOSCA). METHODS We studied the brains of 17 patients with infantile-onset spinocerebellar ataxia with CT and/or MR to determine the presence of cerebellar and brain stem atrophy and parenchymal lesions. RESULTS Cerebellar cortical atrophy was seen in 13 patients. The degree of atrophy c...

Immunochemical analyses (Western blots) of cerebellar homogenates for glutamate dehydrogenase (GDH) from patients with spinocerebellar degeneration and control subjects were conducted. Four patients with autosomal dominant Joseph disease type of spinocerebellar degeneration, one patient with autosomal dominant olivopontocerebellar degeneration and four control subjects were studied. GDH was of ...

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12. Magnetic resonance imaging (MRI) of SCA2 showed significant atrophies of the brainstem, middle cerebellar peduncles, and cerebellum. We report two genetically proven SCA2 patients who showed hype...

We give a complete description of degenerations $3$-dimensional nilpotent algebras, $4$-dimensional commutative algebras and $5$-dimensional anticommutative over $ \mathbb C$. In particular, we correct several mistakes from the paper `Contractions low-dimensional Jordan algebras' by Ancochea Berm\'{u}dez, Fres\'{a}n Margalef Bentabol.