Independent Component Analysis Aided Diagnosis of Cuban Spino Cerebellar Ataxia 2

Neuronal Mechanisms of Spino-Cerebellar Ataxia Type 27

Cellular Transplantation May Modulate Disease Progression in Spino-cerebellar Ataxia – a Case Report

Major Depressive Disorder - A co-morbid condition in a case of spino-cerebellar ataxia with writer's cramp

The psychiatric manifestrations are 77% in patients with degenerative cerebellar diseases. The most common diagnoses are depressive disorders, personality changes and cognitive impairment. Here we report a case of major depressive disorder in a patient with spinocerebellar ataxia with writer's cramp.

Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice

Spino-Cerebellar-Ataxia type 38 (SCA38) is caused by missense mutations in the very long chain fatty acid elongase 5 gene, ELOVL5. The main clinical findings in this disease are ataxia, hyposmia and cerebellar atrophy. Mice in which Elovl5 has been knocked out represent a model of the loss of function hypothesis of SCA38. In agreement with this hypothesis, Elovl5 knock out mice reproduced the m...

The Multiple Faces of Spinocerebellar Ataxia type 2

Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families. Occurrence is higher in specific populations such as the Cuban and Southern Italian. The disease is caused by a CAG expansion in ATXN2 gene, leading to abnormal accumulation of the mutant protein, ataxin-2, in intracellular inclusions. The clinical picture...