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.…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…Atypical progression of motor symptoms in Facio-Scapulo-Humeral Dystrophy: clinical worsening or overlap?
Objective: This case highlights the importance of considering possible overlaps with PSP and other neurodegenerative diseases. Background: Facio-Scapulo-Humeral Dystrophy is a common muscular dystrophy featuring…Hereditary spastic paraplegia type 4 (SPG4): an international multicenter clinical and genetic study
Objective: To describe the epidemiological, clinical, and genetic features of patients affected by hereditary spastic paraplegia (HSP) in an international cohort of affected individuals.To describe…Characterization of gait variability of early Parkinson’s disease and multiple system atrophy
Objective: to determine the potential differences in gait characteristics between PD-GBA carriers and non-carriers (idiopathic Parkinson’s disease (iPD)), both mutually and in relation to MSA-P.…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…
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