Triple X syndrome: Are tremors part of its phenotype?
Objective: To present the case of a woman 47 XXX karyotype who developed tremors, with a background of mild learning disability and epilepsy since childhood.…L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency
Objective: To report a patient with L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency. Background: Although segmental dystonia of the cranial muscles is recognized,…Analysis of LINGO1 and LINGO2 genes in essential tremor and Parkinson’s disease
Objective: We studied the involvement of LINGO1 and LINGO2 in Russian patients with ET and PD. Background: Genetics of ET is unclear. Three candidate loci…Fragile X-associated tremor/ataxia syndrome in two female patients
Objective: To report two cases of female patients with FXTAS. Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action…Two new cases of a novel ovario-leukodystrophy related to AARS2 mutation from Korea
Objective: Progressive leukoencephalopathy with primary ovarian failure (LKENP; OMIM # 615889) is a novel ovario-leukodystophy caused by compound heterozygote mutations in the AARS2 gene of…SLC6A17 mutations are not a common cause of intellectual disability and movement disorders in a large cohort of consanguineous Iranian families
Objective: To determine the prevalence of SLC6A17 mutations in a cohort of Iranian patients with intellectual disability and movement disorders. Background: Mutations in the SLC6A17…Paediatric and adult-onset parkinsonism in Chediak-Higashi disease: A new family
Objective: To report two siblings affected by Chediak-Higashi syndrome (CHS) presenting with a pure neurological phenotype including paediatric and adult-onset parkinsonism. Background: CHS is a…Study on association between physical and genetics role in essential tremor – A case control study
Objective: To elucidate the relationships between physical and genetics parameters in essential tremor patients and controls. Tremor is an involuntary, rhythmic shaking of any part…
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