Related Experiment Video
Updated: Aug 18, 2026

Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
Spinocerebellar ataxia type 15
R J McKinlay Gardner1, Melanie A Knight, Kenju Hara
1Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Melbourne, Australia. mac.gardner@ghsv.org.au
Abstract:
Spinocerebellar ataxia type 15 (SCA15) was first reported in 2001 on the basis of a single large Anglo-Celtic family from Australia, the locus mapping to chromosomal region 3p24.2-3pter. The characteristic clinical feature was of very slow progression, with two affected individuals remaining ambulant without aids after over 50 years of symptoms. Head and/or upper limb action tremor, and gaze-evoked horizontal nystagmus were seen in several persons. MRI brain scans showed predominant vermal atrophy, sparing the brainstem. In 2004, a Japanese pedigree was reported, which displayed very similar clinical features to the original SCA15 family, and which mapped to an overlapping candidate region. These two families might plausibly reflect a locus homogeneity, but for the present this remains an open question.
Related Concept Videos
Secondary Spinal Cord Injury llI: Pathophysiology
Alterations in Muscle Tone ll
Parkinson Disease ll: Pathophysiology
Huntington Disease l: Introduction
Poliomyelitis
Disorders of the Skeletal Muscle
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...

