Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene

Autor:	T. Yamamoto, Yasuo Kuroda, Y. Kukita, H. Tokumoto, Jun-ichi Satoh, Makoto Matsui, K. Hayashi, Motohiro Yukitake, Hirokazu Furuya, Kazuhiro Kurohara, N. Shinnoh, Takuro Kobayashi
Rok vydání:	1997
Předmět:	Pathology medicine.medical_specialty Internal capsule business.industry Galactocerebrosidase Leukodystrophy Late onset medicine.disease White matter medicine.anatomical_structure Centrum semiovale Corticospinal tract Krabbe disease Medicine Neurology (clinical) business
Zdroj:	Neurology. 49:1392-1399
ISSN:	1526-632X 0028-3878
DOI:	10.1212/wnl.49.5.1392
Popis:	A 51-year-old woman developed a slowly progressive spastic paraparesis and diminished vibration sense beginning at age 38. Intellectual capacity was normal. Krabbe disease was confirmed by markedly reduced leukocyte galactocerebrosidase (GALC) activity, typical inclusions in Schwann cell cytoplasm, and an identification of the homozygous point mutation T1835C(Leu618Ser) in the GALC gene. T2-weighted MRI of the brain showed symmetric high-signal-intensity lesions in the bilateral frontoparietal white matter, the centrum semiovale, and the posterior limb of the internal capsule with sparing of the periventricular white matter. This case is unusual because of the late onset, protracted clinical course, and MRI findings of demyelination confined to the corticospinal tracts.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::feb57c32d400c48c59a37856eb2c2a8a https://doi.org/10.1212/wnl.49.5.1392 Zobrazit plný text záznamu