PMM2 mutation
Objective: describe glycosylation type 1A PMM2 mutation presented as motor development regression and cognitive impairment proving to be a disease that should’ve been detected precociously.…A juvenile onset Sandhoff disease case caused by hemizygous mutations of HEXB
Objective: Sandhoff disease (SD) is a rare neurological disease with high clinical heterogeneity. SD in juvenile form is much rarer and it is often misdiagnosed…Gene-environment interactions for Parkinson’s disease
Objective: The aim of this study was to test for interactions between PD-related genetic and phenotypic traits in the 23andMe, Inc. research cohort. Background: Parkinson’s…Outcomes From Genetic Testing in a UK Movement Disorder Clinic
Objective: The reported yield from next generation sequencing (NGS) in Movement Disorder clinics is 11.3 – 22% [1,2]. We aimed to determine current practice and yield…Movement disorders spectrum in CTNNB1-related neurodevelopmental disorders
Objective: To describe the phenomenology and clinical course of movement disorders in CTNNB1-related neurodevelopmental disorder (CTNNB1-NDD). Background: CTNNB1-NDD is a rare neurogenetic condition caused by…Adult onset neuronal Intranuclear Inclusion Disease (NIID) which initially presented with gait imbalance and fall
Objective: To report a rare case of adult onset neuronal intranuclear inclusion disease (NIID) presented with gait disturbance and fall, and finally confirmed with skin…Diffusion Tensor Imaging in GBA-related Parkinson’s disease
Objective: To study the white matter involvement in Parkinson's patients with Glucocerebrosidase mutations (GBA-related PD). Background: While Parkinson's disease (PD) is a neurodegenerative disease with…Autosomal recessive Primary Familial Brain Calcification caused by MYORG mutations. Two unrelated cases from the south of Chile
Objective: To describe two unrelated cases of AR- PFBC with mutations in MYORG gene. Background: Primary Familial Brain Calcification (PFBC) is a rare neurogenetic disorder…The phenotypic landscape and genetic profile of movement disorders in a cohort of tunisian children
Objective: The aim of our study was to report the clinical and genetic features of Tunisian patients with paediatric-onset movement disorders, cerebellar ataxia, and HSP.…Overlapping Pathogenetic Findings in Developmental Coordination Disorder (DCD), Ataxia, Dystonia and Myoclonus: is DCD part of a Movement Disorder Spectrum?
Objective: To explore the underlying pathogenetic mechanisms of Developmental Coordination Disorder (DCD) and compare these with findings in ataxia, dystonia and myoclonus. Background: DCD is…
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