Intrafamilial phenotypic variability of spastic paraplegia type 7: A Case Report
Objective: To characterize the phenotypic variability of spastic paraplegia type 7 in a single family. Background: Spastic paraplegia type 7 (SPG7) is an autosomal recessive…TRPV4 Mutation related Parkinson’s Disease with Scapuloperoneal spinal muscular atrophy
Objective: Scapuloperoneal spinal muscular atrophy (SPSMA) is a rare autosomal dominant disease caused by transient receptor potential cation channel (TRPV4) gene, involving scapular and peroneal…A novel GRM1 variant associated with autosomal dominant cerebellar ataxia (ADCA)
Objective: To present a unique case of ataxia that adds to the genotypic variants associated with the GRM1 gene implicated in SCA44 Background: Heterozygous dominant…A new mutation in the C-terminal domain of the YY1 gene associated with Gabriele-de Vries syndrome.
Objective: To report a new mutation in the YY1 gene in a patient with Gabriele-de Vries syndrome, in which dystonia and choreoathetosis were the most…HSP-SPG5A/CYP7B1: unusual clinical and genetic characteristics in an Indian family
Objective: To carry out a clinical and genetic study of a large Indian family emigrated in Italy with autosomal dominant hereditary spastic paraplegia (ADHSP). Background:…Building a Global Parkinson’s Genetics Program (GP2): Clinical Cohorts Integration Working Group
Objective: To recruit Parkinson's Disease (PD) cohorts across the world for the global Parkinson's Genetics Program (GP2, http://gp2.org/), harmonise clinical data across cohorts for joint…Parkinsonism in individuals with genetic neurodevelopmental disorders: A systematic review
Objective: It is increasingly recognized that individuals with genetic neurodevelopmental disorders (GNDs) such as 22q11.2 deletion syndrome can suffer from parkinsonism. We aim to provide…Autosomal recessive spastic ataxia of Charlevoix-Saguenay: A Mexican case report
Objective: To describe the clinical presentation of 2 Mexican brothers diagnosed with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and compare their presentation with those…Clinical and genetic abnormalities in patients with Friedreich’s ataxia: A genotype-phenotype correlation
Objective: To examine the possibility of molecular finding affecting FRDA phenotype, we studied the clinical features and ascertained the GAA repeat sizes in FRDA patients…Movement Disorders in the Plain People
Objective: Genomic discovery often occurs in large institutions, but the contribution of small, rural genetics clinics must not be overlooked. While rare, these rural genetics…
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