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…Clinical and imagiological features in Portuguese patients with SPG7 mutations
Objective: To better characterize spastic paraplegia type 7 (SPG7) phenotype in a Portuguese cohort of patients. Background: Hereditary spastic paraplegias(HSP) and cerebellar ataxias(CA) are heterogeneous…
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