Extensive cerebral white matter abnormality without clinical symptoms: a new hereditary condition?
Ann Neurol
; 45(6): 801-5, 1999 Jun.
Article
em En
| MEDLINE
| ID: mdl-10360775
ABSTRACT
A 30-year-old father and his 2 sons with slight hyperkinesia and mildly dysmorphic features and their close relatives were examined clinically and with computed tomography (CT) and magnetic resonance imaging (MRI). Neurophysiological and biochemical examinations were normal; however, brain MRI of the father and sons revealed extensive cerebral white matter changes. No radiological progression could be detected at a 13-year follow-up examination of the father, and proton magnetic resonance spectroscopy (MRS) of the father at the age of 30 years was normal. MRI findings in the relatives were normal, suggesting an autosomal dominant syndrome due to a new mutation in the father.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encefalopatias
/
Córtex Cerebral
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Child
/
Humans
/
Male
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
Finlândia