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- Title
An autopsy case of late‐onset spinocerebellar atrophy type 14.
- Authors
Ogawa, Kyoka; Hata, Yukiko; Ichimata, Shojiro; Yoshida, Koji; Nishida, Naoki
- Abstract
Keywords: autopsy; cerebellar ataxia; immunohistochemistry; next generation sequencing; protein kinase C gamma; spinocerebellar atrophy type 14 EN autopsy cerebellar ataxia immunohistochemistry next generation sequencing protein kinase C gamma spinocerebellar atrophy type 14 1 5 5 10/31/23 20231001 NES 231001 Key points We report the autopsy findings of a 73-year-old female who showed cerebellar ataxia and pyramidal signs starting 8 years before death. Although the diagnostic reliability of post mortem blood analysis is not yet fully established, our findings indicate that SCA14 may be a differential diagnosis of late-onset cerebellar ataxia and can be associated with pyramidal signs and spinal cord pathology. In our autopsy investigation, in addition to multiple system atrophy (the most frequent cause of adult-onset ataxia), almost all known causes of secondary cerebellar ataxia were able to be excluded by post-mortem serological investigation [[12]]. Spinocerebellar atrophy type 14 (SCA14) is an autosomal dominant cerebellar ataxia caused by protein kinase C gamma ( I PRKCG i ) gene mutations [[1]].
- Subjects
AUTOPSY; ATROPHY; ALZHEIMER'S disease; HIPPOCAMPUS (Brain); MAGNETIC resonance imaging; DENTATE nucleus; TONSILS; SPREADING cortical depression
- Publication
Neuropathology & Applied Neurobiology, 2023, Vol 49, Issue 5, p1
- ISSN
0305-1846
- Publication type
Article
- DOI
10.1111/nan.12936