The clinical overlap between the different cerebellar ataxias, the occasional atypical phenotypes, and the genetic heterogeneity often complicate the clinical management of such patients. Despite the ...

We know that HD is inherited dominantly (from one parent), and that it is always caused by the expansion of CAG repeats within a gene called huntingtin. Some ataxias are also inherited dominantly, ...

Background Cerebellar ataxias are the result of diverse disease processes ... despite testing for all the known genes for episodic ataxia. Testing a panel of ataxia genes using NGS (42 genes in total) ...

Spinocerebellar ataxias (SCAs) are a group of inherited neurodegenerative ... inherited SCAs are suggested by expansions of simple nucleotide repeats in specific genes. The SCA1, SCA2, SCA3 (also ...

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Most dogs with SCA are put to sleep at a young age due to poor quality of life. SCA is associated with a mutation in the CAPN1 gene. It is suggested that the inheritance of SCA may occur via an ...

Cerebellar ataxia is a neurological disorder of the cerebellum ... The researchers provided one of the decisive pieces of evidence by loading viral gene shuttles with the blueprint for the ...

Others just call it a curse. The progressive neurological disease known as spinocerebellar ataxia 4 (SCA4) is a rare condition, but its effects on patients and their families can be severe.

Because life-threatening causes of pure ataxia are rare in children, an approach in a stepwise fashion is recommended. Acute cerebellar ataxia is the most common cause of childhood ataxia, accounting ...

Acetylleucine is under clinical development by IntraBio and currently in Phase II for Spinocerebellar Ataxia (SCA). According to GlobalData, Phase II drugs for Spinocerebellar Ataxia (SCA) have a 29% ...

(Reuters) - Biohaven has met the main goal in a study evaluating its drug in patients with an inherited disease that mainly ...