CareLit Fachartikel
Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a German family with FHM1, cerebellar atrophy and mental retardation
T Freilinger, M Bohe, B Wegener, M Dichgans, H Knoblauch · Aktuelle Neurologie · 2007 · Heft 09
Dokument
1137159
CareLit-ID
Jahr
2007
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Zusammenfassung
Background: Familial hemiplegic migraine (FHM) is a rare monogenic variant of migraine with aura characterized by some degree of hemiparesis during the aura. Mutations in three different genes have been identified in affected pedigrees: CACNA1A (FHM1), ATP1A2 (FHM2), and SCN1A (FHM3). More than 50% of pedigrees and all families with FHM plus cerebellar signs are linked to the FHM1 locus. Mental retardation (MR) has previously been recognized as part of the phenotypic spectrum of FHM. So far, it has been predominantly reported in families with FHM2. Here, we present clinical, neuropsychological and genetic data o…
Schlagworte
Aura
Atrophy
Diagnosis
Seizures
Ataxia
Blood
Aktuelle Neurologie
