Spinocerebellar Ataxias

Mizusawa, Hidehiro; Clark, H. Brent; Koeppen, Arnulf H.

doi:10.1002/9781444341256.ch27

Cited by 3 publications

(2 citation statements)

References 119 publications

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“…There were also some differences in the immunohistochemical findings of synaptophysin and ubiquitin. These are examples of the well‐known fact that there is a clinical and neuropathological variability among SCA patients even within the same genotype 4 …”

Section: Discussionmentioning

confidence: 99%

“…These are examples of the well-known fact that there is a clinical and neuropathological variability among SCA patients even within the same genotype. 4 In addition to the peculiar change around the perikarya of Purkinje cells, what impressed us most deeply was a diversity of cytomorphological alterations seen in the remaining Purkinje cells. These included severe nuclear pyknosis and atrophy, abnormal paleness of the cytoplasm, 16q-linked cerebellar ataxia "somatic sprouting", a ghost-like appearance, and dislodgement of cells.…”

Section: Discussionmentioning

confidence: 99%

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Chromosome 16q22.1‐linked autosomal dominant cerebellar ataxia: An autopsy case report with some new observations on cerebellar pathology

Shintaku¹,

Kaneda

2009

Neuropathology

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An autopsy case of chromosome 16q22.1-linked autosomal dominant cerebellar ataxia is reported. The patient was a 77-year-old man who died after a clinical course of about 19 years characterized by pure cerebellar ataxia. Main neuropathological findings included moderate loss of Purkinje cells, variegated degenerative features of the remaining Purkinje cells, finely fibrillary material surrounding the perikarya of Purkinje cells, and ubiquitin-immunoreactive small dots in the molecular layer and cerebellar white matter. Neuritic hyperplasia surrounding the perikarya of Purkinje cells was also a prominent finding. Golgi impregnation study demonstrated poor dendritic arborization of some Purkinje cells. It is our assumption that the pathological processes leading to Purkinje cell death in this disorder are not singular because the intracellular functions of the protein coded by the mutant gene are manifold, and the multiplicity of the pathological processes is reflected in diverse cytomorphological changes seen in degenerating Purkinje cells.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Chromosome 16q22.1‐linked autosomal dominant cerebellar ataxia: An autopsy case report with some new observations on cerebellar pathology

Shintaku¹,

Kaneda

2009

Neuropathology

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Imaging in Movement Disorder Phenomenology

Frucht

Termsarasab

2020

Movement Disorders Phenomenology

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Postmortem neuropathology in early Huntington disease

Hedreen,

Berretta,

White III

2024

Journal of Neuropathology &Amp; Experimental Neurology

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Two aspects of the neuropathology of early Huntington disease (HD) are examined. Neurons of the neostriatum are counted to determine relative loss in striosomes versus matrix at early stages, including for the first time in preclinical cases. An immunohistochemical procedure is described that tentatively distinguishes early HD from HD mimic disorders in postmortem brains. Counts of striatal projection neurons (SPNs) in striosomes defined by calbindin immunohistochemistry versus counts in the surrounding matrix are reported for 8 Vonsattel grade 0 (including 5 premanifest), 8 grade 1, 2 grade 2 HD, and for 8 control postmortem brains. Mean counts of striosome and matrix SPNs were significantly lower in premanifest grade 0 versus controls, with striosome counts significantly lower than matrix. In 8 grade 1 and 2 grade 2 brains, no striosomes with higher SPN counts than in the surrounding matrix were observed. Comparing dorsal versus ventral neostriatum, SPNs in dorsal striosomes and matrix declined more than ventral, making clear the importance of the dorsoventral site of tissue selection for research studies. A characteristic pattern of expanded polyglutamine-immunopositive inclusions was seen in all HD cases. Inclusions were always present in some SPNs and some pontine nucleus neurons and were absent in Purkinje cells, which showed no obvious cell loss.

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Spinocerebellar Ataxias

Cited by 3 publications

References 119 publications

Chromosome 16q22.1‐linked autosomal dominant cerebellar ataxia: An autopsy case report with some new observations on cerebellar pathology

Chromosome 16q22.1‐linked autosomal dominant cerebellar ataxia: An autopsy case report with some new observations on cerebellar pathology

Imaging in Movement Disorder Phenomenology

Postmortem neuropathology in early Huntington disease

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