First Reported Case of Parkinsonism in a Patient with Argininosuccinate Lyase Deficiency
Objective: The purpose of this case report is to detail the phenotype of parkinsonism encountered in a patient with Argininosuccinate Lyase Deficiency (ASLD) that has…Assessing the involvement of ARSG and RAB12 variants in Musician’s Focal Dystonia from the US.
Objective: To assess the involvement of genetic risk factors in implicated genes in a US cohort with musician's focal dystonia (MFD). Background: MFD affects 1-2%…RAB12 variants and their role in dystonia
Objective: To evaluate the role of mutations in RAB12 in different forms of dystonia. Background: By next generation sequencing, we recently identified an extremely rare…Dystonia due to bilateral caudate hemorrhage associated with a COL4A1 mutation
Objective: Pathogenic mutations of COL4A1 are associated with young-onset stroke and porencephaly. We present a case of a 32-year-old female patient with juvenile onset right hand…NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy
Objective: To elucidate the genetic cause of a distinct combined dystonia syndrome, inherited in an autosomal recessive fashion in a small UK kindred [Figure1A]. Background:…Trisomy 8 Mosaicism and dystonia: a THAP1 overdose?
Objective: We report a case of Trisomy 8 Mosaicism (T8M, Warkany Syndrome) with craniocervical and hand dystonia, an hitherto unreported disease association. Background: T8M is…Focal dystonia as an early symptom of CACNA1A mutation: case report and literature review.
Objective: We describe two cases, a father-daughter pair, of CACNA1A mutation with task specific dystonia as an early feature. The father otherwise had a phenotype…Intracranial calcifications and dystonia associated with a novel deletion encompassing SLC20A2 and THAP1
Objective: Describe a case of dystonia and intracranial calcifications associated with a deletion within 8p11.21 Background: Multiple genes located within chromosome 8p11.21 are associated with…Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC): a Mexican case report.
Objective: To report the first case in Mexico of a patient with generalized dystonia and self-mutilation of the tongue with clinical and radiological diagnosis of…Association analysis of single nucleotide polymorphisms near the DYT3 locus to dystonic symptoms in X-linked dystonia-parkinsonism
Objective: We aimed to elucidatewhether single nucleotide polymorphisms within the XDP locus affect the phenotypic expression of XDP. Background: X-linked Dystonia-Parkinsonism (XDP, DYT3, Lubag Disease,…
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