Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia?

Abstract:

:The genetically heterozygous spinocerebellar ataxias are all characterized by cerebellar atrophy and pervasive Purkinje Cell degeneration. Up to date, more than 35 functionally diverse spinocerebellar ataxia genes have been identified. The main question that remains yet unsolved is why do some many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia? To address this question it is important to identify intrinsic pathways important for Purkinje Cell function and survival. In this review, we discuss the current consensus on shared mechanisms underlying the pervasive Purkinje Cell loss in spinocerebellar ataxia. Additionally, using recently published cell type specific expression data, we identified several Purkinje Cell-specific genes and discuss how the corresponding pathways might underlie the vulnerability of Purkinje Cells in response to the diverse genetic insults causing spinocerebellar ataxia.

journal_name

Neurosci Lett

journal_title

Neuroscience letters

authors

Huang M,Verbeek DS

doi

10.1016/j.neulet.2018.02.004

subject

Has Abstract

pub_date

2019-01-01 00:00:00

pages

49-57

eissn

0304-3940

issn

1872-7972

pii

S0304-3940(18)30080-6

journal_volume

688

pub_type

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