Spinocerebellar Ataxia Type 4: a Novel Polyglycine Disease caused by GGC Repeat Expansion in ZFHX3.
Objective: Identification of the mutation causing SCA4. Background: SCA4 is an autosomal dominant disease, originally described in a large Utah pedigree, characterized by sensory and…Non Classified Spinocerebellar Ataxia-like Syndrome due to GYG-1 gene mutation with TPM3, GEMIN5 and DES mutations in a Peruvian family
Objective: To report a GYG1 mutation in a Peruvian family presenting as a non classified Spinocerebellar Ataxia (SCA) with added GEMIN5, DES and TPM3 mutations.…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…Autosomal dominant Parkinson’s disease caused by SNCA p.E46K variant in family with Russian ancestry: A case report
Objective: To report a family with autosomal dominant Parkinson’s disease (PD) with SNCA p.E46K variant. Background: Alpha-synuclein, encoded by SNCA, is a part of Lewy…Quasi tandem repeat in TCERG1 may influence age at onset of X-linked dystonia-parkinsonism
Objective: To investigate whether the hexamer repeat in the TCERG1 gene plays a role in modifying disease onset in X-linked dystonia-parkinsonism (XDP). Background: Recently, it…Slow progressive neurocognitive impairment with Parkinsonism: A rare, adult-onset Neuronal Intranuclear Inclusion disease (NIID) case report
Objective: We described a case of a 62-years old lady with underlying diabetes and hypertension, presented with right upper intermittent resting tremor and stiffness for…Using wearable wireless technology to understand the natural history of adrenomyeloneuropathy in both clinic and home settings: 1-year follow-up in the CYGNET study
Objective: To assess the feasibility of using wearable wireless motion sensors to quantify disease progression in men with adrenomyeloneuropathy (AMN) enrolled in the CYGNET natural…Applying the COM-B model to identify potential barriers for in-person on-site visits within the Healthy Brain Ageing (HeBA) study in Luxembourg
Objective: This study aims to (1) apply the Capability, Opportunity, and Motivation model of Behaviour (COM-B) to the HeBA online survey to identify potential barriers that could…Consanguinity is the key player in complexity of Mendelian form of neurodegeneration with brain iron accumulation in Pakistan
Objective: In the current work, we recognized big inbreed Pakistani family with autosomal recessive NBIA containing several affected individuals. Aim of the research work was…Huntington’s disease-like 2 phenotypes: a case series from a Brazilian referral center
Objective: To describe the clinical phenotypes of Huntington’s disease-like 2 patients in a referral movement disorders (MD) center in Brazil. Background: Huntington's disease-like 2 (HDL2)…
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