Case Report of a Brazilian Family With New VUS for PLAN
Objective: The aim is to describe a Brazilian family with new VUS of PLA2G6 in two brothers with clinical symptoms of PLAN. Background: PLAN is…Parkinson’s disease (PD) associated with the E46K mutation in the SNCA gene, twenty years after
Objective: To provide an updated overview of Parkinson’s disease (PD) associated with E46K mutation carriers in the SNCA gene 20 years after its description, incorporating…Utility of Instrumented Timed Up and Go Test to Estimate Disease Severity in Huntington Disease.
Objective: To investigate the utility of Instrumented Timed Up and Go (TUG) test to estimate disease severity in people with Huntington Disease (PwHD). Background: Huntington…Patient Reported Outcomes of Using a Chaplain Service in a Huntington’s Disease Clinic
Objective: To better understand and describe the impact of providing spiritual care, in the form of a chaplain service, to patients being seen in a…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.…The use of modelling in Huntington’s disease
Objective: Summarising the development of mathematical models to further HD research through characterisation and disease progression. Background: There have been major advances in HD research…A novel G413S mutation in the CSF1R gene causes Hereditary Diffuse Leucoencephalopathy with axonal Spheroids; clinically overlapping features of Parkinsonism
Objective: The current study was designed to investigate the genetic cause of atypical Parkinsonism is a multigenerational Pakistani family Background: Hereditary Diffuse Leucoencephalopathy with axonal…Global presence and penetrance of CSF1R-Related disorder
Objective: The study aimed to assess the occurrence of CSF1R-related disorder (CSF1R-RD) and present the first haplotype analysis. Background: Since the discovery of CSF1-R gene…New Pathological Findings in an International Cohort of Hereditary Spastic Paraplegia 4 Patients
Objective: To determine the clinical and genetic differences in hereditary spastic paraplegia SPG4 patients across various countries. Background: SPG4/SPAST gene account for approximately 40% of…
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