Novel TUBB4A variants in idiopathic dystonia
Objective: The aim of this study is to investigate TUBB4A variants in patients with idiopathic dystonia. Background: Mutations in TUBB4A, which encodes beta-tubulin 4A, were…Whole Exome Sequencing (WES) identifies a TUBB4A Mutation in two Saudi siblings with hypomyelinating leukodystrophy associated with atrophy of basal ganglia and cerebellum.
Objective: To highlight the presentation of TUBB4A mutations. Background: Hypomyelinating leukodystrophy, identified in 2002 by magnetic resonance imaging is a rare heterogeneous group of diseases…Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7
Objective: To describe a case of spasmodic dysphonia associated with hereditary spastic paraplegia (HSP) type 7. Background: HSP is a heterogeneous group of inherited disorders…An unusual presentation of tyrosine hydroxylase deficiency
Objective: To discuss a case of tyrosine hydroxylase deficiency presenting with resolution of symptoms on levodopa except for a dynamic segmental dystonia Background: Dopa-responsive dystonia…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…
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