Open AccessSpinocerebellar Ataxia Type 3: A Case Report and Literature Review
Author(s) -
Matthew R McCord,
Eileen H. Bigio,
Kwok Ling Kam,
Victoria Fischer,
Farres Obeidin,
Charles L. White,
Daniel J. Brat,
William A. Müller,
Qinwen Mao
Publication year - 2020
Publication title -
journal of neuropathology and experimental neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.441
H-Index - 164
eISSN - 1554-6578
pISSN - 0022-3069
DOI - 10.1093/jnen/nlaa033
Subject(s) - machado–joseph disease , spinocerebellar ataxia , degenerative disease , ataxia , inferior olivary nucleus , cerebellum , neuroscience , basal ganglia , spinal cord , pathology , medicine , disease , psychology , central nervous system
Spinocerebellar ataxia type 3 (SCA3), also known by the eponym Machado-Joseph disease, is an autosomal dominant CAG trinucleotide (polyglutamine) repeat disease that presents in young- to middle-aged adults. SCA3 was first described in Azorean individuals and has interesting epidemiological patterns. It is characterized clinically by progressive ataxia and neuropathologically by progressive degenerative changes in the spinal cord and cerebellum, along with degeneration of the cortex and basal ganglia. Here, we describe the clinical and neuropathologic features in a case of SCA3 with unique findings, including involvement of the inferior olivary nucleus and cerebellar Purkinje cell layer, which are classically spared in the disease. We also discuss research into the disease mechanisms of SCA3 and the potential for therapeutic intervention.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom