A novel mutation in the HTRA1 gene causes CARASIL without alopecia

Neurology. 2011 Apr 12;76(15):1353-5. doi: 10.1212/WNL.0b013e318215281d.

Authors

Y Nishimoto¹, M Shibata, M Nihonmatsu, H Nozaki, A Shiga, A Shirata, K Yamane, A Kosakai, K Takahashi, M Nishizawa, O Onodera, N Suzuki

Affiliation

¹ Department of Neurology, School of Medicine, Keio University, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. ynishimo@z3.keio.jp

PMID: 21482952
DOI: 10.1212/WNL.0b013e318215281d

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Alopecia / complications
Arginine
Base Sequence
Cerebral Infarction / complications
Cerebral Infarction / genetics*
Female
Glutamine
High-Temperature Requirement A Serine Peptidase 1
Humans
Intracranial Arterial Diseases / complications
Intracranial Arterial Diseases / genetics*
Leukoencephalopathy, Progressive Multifocal / complications
Leukoencephalopathy, Progressive Multifocal / genetics*
Male
Mutation, Missense*
Pedigree
Serine Endopeptidases / genetics*

Substances

Glutamine
Arginine
High-Temperature Requirement A Serine Peptidase 1
HTRA1 protein, human
Serine Endopeptidases