Impaired Nt-acetylation and the Golgi, a new disease mechanism leading to autosomal recessive primary familial brain calcifications
Objective: To identify new disease-gene in unsolved autosomal recessive primary familial brain calcifications. Background: Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain,…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…GRIN2D is a cause of autosomal dominant form of Parkinson’s disease
Objective: To identify novel genes involved in the familial form of Parkinson’s disease (PD) in the Indian population. Background: Most of the familial forms of…Correlations between cognitive impairments and brain abnormalities in Wilson disease: a systematic review
Objective: To provide an overview of brain regions involved in cognitive impairment (CI) in Wilson disease (WD) with the aim of understanding pathomechanisms. Background: WD…Longitudinal Program to Prevent PD (LoPP-PD): Multimodal Risk Stratification Informs Personalized Intervention
Objective: Longitudinal evaluation of personalized intervention strategies informed by detailed clinical and laboratory biomarker analysis to reduce relative risk of Parkinson’s disease in first degree…Novel bi-allelic variants in FBXO7 in a family with young-onset typical Parkinson’s disease
Objective: To describe the case of two brothers affected by typical young-onset Parkinson’s disease (PD), carrying novel compound heterozygous variants in FBXO7. Background: Bi-allelic mutations…ASYMMETRIC EARLY-ONSET PARKINSONISM DUE TO PSEN1 MUTATION
Objective: To report a novel case of early-onset parkinsonism due to a presenilin 1 gene (PSEN1) mutation. Background: Mutations in PSEN1 gene are the most…
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