Widening the phenotype of FXTAS in females: Spasmodic dysphonia in two patients
Objective: We present the cases of two female FXTAS patients who both developed spasmodic dysphonia (SD), also known as laryngeal dystonia. Background: Fragile-X-associated tremor/ataxia syndrome…Scoring Algorithm-Based Genomic Testing in Dystonia: real-life data from the outpatient clinic
Objective: To test a scoring algorithm to guide genetic testing in dystonia. Background: Recent evidence from a large multicentric study allowed to establish a scoring…KMT2B episignature analysis identifies a probably hypomorphic missense variant in a family with dystonic and non-dystonic phenotypes
Objective: Recently, DNA methylation episignature analysis has been introduced as a tool enabling re-classification of “variants of uncertain significance“ (VUS) in lysine-specific methyltransferase 2B (KMT2B),…Brain structure alternations and disrupted functional connectivity in paroxysmal kinesigenic dyskinesia
Objective: This study aimed to delineate the morphological and functional alterations of paroxysmal kinesigenic dyskinesia (PKD) by functional magnetic resonance imaging (fMRI). Background: PKD is…Scoring Algorithm-Based Genomic Testing in Dystonia- A Validation study from a Single Centre Cohort from India
Objective: To validate a recently introduced scoring algorithm predicting the diagnostic utility of exome sequencing for dystonia. Background: Despite the increasing availability of next generation…GLUT1 Deficiency Syndrome with Novel mutation responsive to GPi DBS
Objective: To describe a case of a patient with a progressive primary isolated generalized dystonia of childhood onset associated to a novel SLC2A1 mutation with…The Spectrum of Movement Disorders Associated With NUS1 Pathogenic Variants
Objective: To explore the phenotype of NUS1-related disorders and determine the spectrum of movement disorders in patients with NUS1 pathogenic variants. Background: A growing body…Dopa-responsive Combined Dystonia Due to ATP1A3 Gene Variant
Objective: To describe a remarkable case of a patient with an atypical ATP1A3 phenotype with levodopa responsiveness, expanding our understanding of this gene mutation. Background: The ATP1A3-spectrum disorders…X-Linked Dystonia Parkinsonism as the cause of Isolated Lingual Dystonia (ILD)
Objective: This report aims to describe a 43-year-old Filipino male with ILD aggravated by speech and swallowing. This paper highlights the importance of including XDP…DHDDS and NUS1: A converging pathway and common phenotype
Objective: To report on the clinical spectrum of variants affecting dehydrodolichol diphosphate synthetase (DHDDS) and nuclear undecaprenyl pyrophosphate Synthase 1 (NUS1) and particularly to highlight their…
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