Whole exome sequencing identifies novel variants underlying Ataxia with Oculomotor Apraxia type 1 in Pakistani consanguineous families
Objective: To investigate the underlying pathogenic variants in four consanguineous Pakistani families segregating Ataxia with Oculomotor Apraxia type 1 Background: Ataxia with Oculomotor Apraxia type 1…Gene and variant curation of Parkinson’s disease genes by an authoritative expert panel
Objective: Establish an authoritative central curation for causative genes and variants for Parkinson’s disease (PD) Background: The urgency to establish central curation for causative genes…Clinical,imaging and genetic correlations in a Neuronal Brain Iron accumulation cohort from India
Objective: To correlate, clinical and magnetic resonance imaging (MRI) characteristics, of patients with neurodegeneration with brain iron accumulation (NBIA), with genetics and establish genotype-phenotype correlations…Selection of clinical doses for SBT101, an AAV9-hABCD1 vector for the treatment of adrenomyeloneuropathy
Objective: To inform selection of doses of SBT101 for a first-in-human clinical study. SBT101 is an adeno-associated virus serotype 9 (AAV9)-based gene therapy candidate intended…Clinical and genetic research in a large Ukrainian family with autosomal recessive hereditary spastic paraplegia
Objective: To perform a clinical and genetic analysis of a large Ukrainian pedigree emigrated in Italy with autosomal recessive hereditary spastic paraplegia (ARHSP). Background: HSPs…Milder presentation in two compound heterozygote cases of spastic paraplegias type 5
Objective: Describing two mild compound heterozygote SPG5A cases. Background: Hereditary spastic paraplegia type 5 (SPG5A) is an autosomal recessive neurodegenerative disease caused by variants in…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…An AAV9 encoding human ABCD1 (SBT101) shows functional improvement following spinal cord delivery in a rodent model of adrenomyeloneuropathy
Objective: SBT101 is an adeno-associated virus serotype 9 (AAV9)-based gene therapy candidate delivering a functional copy of the human ABCD1 gene that is in development…Deep Brain Stimulation for Rare Neurodegenerative Diseases: Three-Center Experience
Objective: To report deep brain stimulation (DBS) outcomes of rare neurodegenerative movement disorders from three tertiary movement disorders centers in Turkey. Background: Deep brain stimulation…Autosomal recessive spinocerebellar ataxia type 10: a case report in Mexico
Objective: To provide a comprehensive description of the first clinical case of SCAR10 diagnosed in Mexico. Background: The autosomal recessive spinocerebellar ataxia type 10 is…
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