Related Experiment Video
Updated: May 30, 2026

Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
Spinocerebellar ataxia type 6
Ana Solodkin1, Christopher M Gomez
1Department of Neurology, University of Chicago Medical Center, Chicago, IL 606337, USA. Solodkin@chicago.edu
Abstract:
The autosomal dominant spinocerebellar ataxias (SCA) are a genetically heterogeneous group of neurodegenerative disorders characterized by progressive motor incoordination, in some cases with ataxia alone and in others in association with additional progressive neurological deficits. Spinocerebellar ataxia type 6 (SCA6) is the prototype of a pure cerebellar ataxia, associated with a severe form of progressive ataxia and cerebellar dysfunction. SCA6, originally classified as such by Zhuchenko et al. (1997), is caused by a CAG repeat expansion in the CACNA1A gene which encodes the α1A subunit of the P/Q-type voltage-gated calcium channel. SCA6 is one of ten polyglutamine-encoding CAG nucleotide repeat expansion disorders comprising other neurodegenerative disorders such as Huntington's disease. The present review describes clinical, genetic, and pathological manifestations associated with this illness. Currently, there is no treatment for this neurodegenerative disease. Successful therapeutic strategies must target a valid pathological mechanism; thus, understanding the underlying mechanisms of disease is crucial to finding a proper treatment. Hence, this chapter will discuss as well the molecular mechanisms possibly associated with SCA6 pathology and their implication for the development of future treatment.
Related Concept Videos
Major Somatic Sensory Pathways
Somatic Spinal Reflexes
One of the most well-known somatic spinal reflexes is the stretch reflex, which is activated by the sudden stretching of a muscle. This reflex involves the activation of specialized sensory receptors called muscle spindles, which are located in the muscle tissue and detect changes in the length and speed of muscle contractions. When a muscle is suddenly...
Alterations in Muscle Tone ll
Secondary Spinal Cord Injury llI: Pathophysiology
Parkinson Disease ll: Pathophysiology
Huntington Disease l: Introduction
