TY - JOUR
T1 - Spinocerebellar Ataxia Type 3
T2 - A case report and literature review
AU - McCord, Matthew R.
AU - Bigio, Eileen H.
AU - Kam, Kwok Ling
AU - Fischer, Victoria
AU - Obeidin, Farres
AU - White, Charles L.
AU - Brat, Daniel J.
AU - Muller, William A.
AU - Mao, Qinwen
N1 - Publisher Copyright:
© 2020 American Association of Neuropathologists, Inc. All rights reserved.
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - CAG repeat
KW - Cortical sparing
KW - Inferior olivary nucleus
KW - Machado-Joseph disease
KW - Polyglutamine disease
KW - Spinocerebellar ataxia type 3
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U2 - 10.1093/JNEN/NLAA033
DO - 10.1093/JNEN/NLAA033
M3 - Article
C2 - 32346735
AN - SCOPUS:85085156971
SN - 0022-3069
VL - 79
SP - 641
EP - 646
JO - Journal of Neuropathology and Experimental Neurology
JF - Journal of Neuropathology and Experimental Neurology
IS - 6
ER -