Alexander A. Schmidt

Learn More
Musician's brains constitute an interesting model for neuroplasticity. Imaging studies demonstrated that sensorimotor cortical representations are altered in musicians, which was assumed to arise from the development of skilled performance. However, the perceptual consequences of the cortical changes remain elusive. Here we ask whether cortical(More)
We report the clinical features of the original Chilean family with Kufor-Rakeb syndrome (KRS) that led to the discovery of the ATP13A2 gene at the PARK9 locus. KRS is a rare juvenile-onset autosomal recessive disease characterized by progressive Parkinsonism, pyramidal signs, and cognitive decline in addition to vertical gaze palsy and(More)
OBJECTIVE A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family. METHODS Genome-wide linkage analysis was carried out in 14 family members followed by genome sequencing(More)
OBJECTIVE To test the hypothesis that there is familial aggregation of dystonia and other movement disorders in relatives of patients with musician's dystonia (MD) and to identify possible environmental triggers. METHODS The families of 28 index patients with MD (14 with a reported positive family history of focal task-specific dystonia [FTSD] and 14 with(More)
Musician's dystonia is generally considered a sporadic disorder. We present three families with the index patient affected by musician's dystonia, but other forms of upper limb focal task-specific dystonia (FTSD), mainly writer's cramp, in seven relatives. Our results suggest a genetic contribution to FTSD with phenotypic variability, including musician's(More)
BACKGROUND DYT6 is a primary, early-onset torsion dystonia; however, unlike in DYT1 dystonia, the symptoms of DYT6 dystonia frequently involve the craniocervical region. Recently, two mutations in THAP1, the gene that encodes THAP (thanatos-associated protein) domain-containing apoptosis-associated protein 1 (THAP1), have been identified as a cause of DYT6(More)
Olfaction is typically impaired in idiopathic Parkinson's disease (IPD), but its role is uncertain in monogenic PD. Diminished color discrimination has been suggested as another early sign of dopaminergic dysfunction but not been systematically studied. Furthermore, it is unknown whether both deficits are linked. We examined 100 patients with IPD, 27(More)
BACKGROUND While homozygous mutations in the PINK1 gene cause recessively inherited early-onset Parkinson disease (PD), heterozygous mutations have been suggested as a susceptibility factor. METHODS To evaluate this hypothesis, 4 homozygous PINK1 patients with PD and 10 asymptomatic carriers of a single heterozygous mutation from a large German family(More)
OBJECTIVE To determine clinical features and to identify changes in brain structure and function in compound heterozygous and heterozygous ATP13A2 mutation carriers. DESIGN Prospective multimodal clinical and neuroimaging study. SETTING University of Lübeck, Lübeck, Germany. PARTICIPANTS Eight family members of a large Chilean pedigree with(More)