BACKGROUND: An @entity69238 missense mutation in exon 10 of the tau gene reported in an American family with @entity64752 ( @entity4943 family) was recently found in members of a French kindred with @entity303 and @entity7463 . OBJECTIVES: To compare clinical phenotypes of both families and to perform genealogical and molecular genetic studies to determine whether they are derived from a common founder. DESIGN AND METHODS: We performed clinical examinations of affected members of both families and compared clinical phenotypes, existing genealogical family records, and chromosome 17 microsatellite repeat markers in the vicinity of the tau gene. RESULTS: The inheritance pattern is autosomal dominant in the @entity4943 family and appears so in the French family. Average age at onset of clinical symptoms was 43 years in the @entity4943 family and 41 years in the French family. Mean disease duration was 8 years in the @entity4943 family and 6 years in the French family. @entity304 , personality changes, and @entity303 of the frontotemporal type were seen in both kindreds. All affected @entity1 exhibited rapidly progressive @entity304 characterized by @entity2845 , @entity400 , postural instability, and @entity2003 . Some had a transient response to levodopa therapy during the initial stages. Pyramidal signs and @entity2358 , including supranuclear gaze palsy, were common. Results of linkage studies of the tau region in chromosome 17 did not reveal a haplotype common to both kindreds. CONCLUSIONS: Affected members from both families had more clinical similarities than differences. Results of genealogical and molecular genetic studies determined that the families were not related. The @entity69238 mutations found in both families have independent origins.

Clinical features and disease haplotypes of individuals with the @entity69238 tau gene mutation: a comparison of the XXXX kindred and a French family.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity2003 :: ('MESH:D009127', 'Disease') :: ['rigidity'] @entity304 :: ('MESH:D010302', 'Disease') :: ['Parkinsonism', 'parkinsonism'] @entity303 :: ('MESH:D003704', 'Disease') :: ['dementia'] @entity2358 :: ('MESH:D020820', 'Disease') :: ['eye movement abnormalities'] @entity2845 :: ('MESH:D018476', 'Disease') :: ['bradykinesia'] @entity400 :: ('MESH:D014202', 'Disease') :: ['tremor'] @entity64752 :: ('MESH:C563003', 'Disease') :: ['pallidopontonigral degeneration'] @entity4943 :: ('MESH:D057180', 'Disease') :: ['PPND'] @entity7463 :: ('MESH:D013494', 'Disease') :: ['supranuclear palsy'] @entity69238 :: ('p|SUB|N|279|K', 'ProteinMutation') :: ['N279K']
@entity64752 :: (MESH:C563003,Disease) :: ['pallidopontonigral degeneration']
