Spinocerebellar ataxia: an update

R Sullivan, WY Yau, E O'Connor, H Houlden - Journal of neurology, 2019 - Springer
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …

Polyglutamine spinocerebellar ataxias—from genes to potential treatments

HL Paulson, VG Shakkottai, HB Clark… - Nature Reviews …, 2017 - nature.com
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

EAR Nibbeling, A Duarri, CC Verschuuren-Bemelmans… - Brain, 2017 - academic.oup.com
The autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic
nomenclature, are a rare group of progressive neurodegenerative disorders characterized …

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

M Coutelier, G Coarelli, ML Monin, J Konop… - Brain, 2017 - academic.oup.com
Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background,
with mutations in 34 genes identified so far. This large amount of implicated genes accounts …

Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society task force–an update

LM Lange, P Gonzalez‐Latapi… - Movement …, 2022 - Wiley Online Library
Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of
Genetic Movement Disorders presented a new system for naming genetically determined …

Aberrant cerebellar circuitry in the spinocerebellar ataxias

KJ Robinson, M Watchon, AS Laird - Frontiers in neuroscience, 2020 - frontiersin.org
The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative
diseases that share convergent disease features. A common symptom of these diseases is …

New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

M Corral-Juan, P Casquero… - Brain …, 2022 - academic.oup.com
Spinocerebellar ataxias consist of a highly heterogeneous group of inherited movement
disorders clinically characterized by progressive cerebellar ataxia variably associated with …

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

M Huang, DS Verbeek - Neuroscience letters, 2019 - Elsevier
The genetically heterozygous spinocerebellar ataxias are all characterized by cerebellar
atrophy and pervasive Purkinje Cell degeneration. Up to date, more than 35 functionally …

Spinocerebellar ataxias

BW Soong, PJ Morrison - Handbook of clinical neurology, 2018 - Elsevier
There are over 40 autosomal dominant spinocerebellar ataxias (SCAs) now identified. In this
chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy …

Primary and secondary ataxias

HAG Teive, T Ashizawa - Current opinion in neurology, 2015 - journals.lww.com
Knowledge of primary ataxias has been growing rapidly in recent years. Here we review
different forms of primary ataxia, including inherited forms, which are subdivided into …