COL4A1 Mutation in a Patient With Sporadic, Recurrent Intracerebral Hemorrhage | Zendy

Katayoun Vahedi | Zendy; Nathalie Kubis | Zendy; Monique Boukobza | Zendy; Minh Arnoult | Zendy; Pascale Massin | Zendy; Elisabeth TournierLasserve | Zendy; MarieGermaine Bousser | Zendy

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COL4A1 Mutation in a Patient With Sporadic, Recurrent Intracerebral Hemorrhage

Author(s) -

Katayoun Vahedi,

Nathalie Kubis,

Monique Boukobza,

Minh Arnoult,

Pascale Massin,

Elisabeth TournierLasserve,

MarieGermaine Bousser

Publication year - 2007

Publication title -

stroke

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.397

H-Index - 319

eISSN - 1524-4628

pISSN - 0039-2499

DOI - 10.1161/strokeaha.106.475194

Subject(s) - medicine , hemiparesis , porencephaly , leukoencephalopathy , family history , intracerebral hemorrhage , pediatrics , stroke (engine) , pathology , disease , surgery , lesion , mechanical engineering , subarachnoid hemorrhage , engineering

Recently COL4A1, a gene encoding the type IV collagen alpha1 chain, has been found to be involved in families with autosomal-dominant porencephaly and infantile hemiparesis. In addition to neonatal stroke, some family members had experienced, during adulthood, spontaneous intracerebral hemorrhages (ICHs) and leukoencephalopathy, suggestive of underlying small-vessel disease of the brain. We now report a patient with sporadic, recurrent ICHs and a novel COL4A1 mutation.

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