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Article

[Clinical manifestations and neuroradiological findings of CARASIL with a novel mutation].

Rinsho shinkeigaku = Clinical neurology - 1 Jan 2012

Shibata Mamoru

Abstract excerpt

A 44-year-old female was referred to our department for the evaluation of diffuse leukoencephalopathy. She had exhibited lumbago and gait disturbance due to lumbar spondylosis in the third decade of her life. She had become bed-ridden at 42 of age. Besides, she had developed with cognitive decline and decreased speech in her early forties. Consanguinity was recognized in her family pedigree, such that her father...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23196619
DOI: 10.5692/clinicalneurol.52.1363

Genes

HTRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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