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…Validation of Inertial Measurement Units and an application compared with the reference system to assess the gait in hereditary spastic paraplegia
Objective: To assess the reliability of spatiotemporal parameter measurements in HSP patients obtained from an inertial system and an application compared with the conventional motion…Adult onset neuronal Intranuclear Inclusion Disease (NIID) which initially presented with gait imbalance and fall
Objective: To report a rare case of adult onset neuronal intranuclear inclusion disease (NIID) presented with gait disturbance and fall, and finally confirmed with skin…Diffusion Tensor Imaging in GBA-related Parkinson’s disease
Objective: To study the white matter involvement in Parkinson's patients with Glucocerebrosidase mutations (GBA-related PD). Background: While Parkinson's disease (PD) is a neurodegenerative disease with…Autosomal recessive Primary Familial Brain Calcification caused by MYORG mutations. Two unrelated cases from the south of Chile
Objective: To describe two unrelated cases of AR- PFBC with mutations in MYORG gene. Background: Primary Familial Brain Calcification (PFBC) is a rare neurogenetic disorder…The phenotypic landscape and genetic profile of movement disorders in a cohort of tunisian children
Objective: The aim of our study was to report the clinical and genetic features of Tunisian patients with paediatric-onset movement disorders, cerebellar ataxia, and HSP.…Overlapping Pathogenetic Findings in Developmental Coordination Disorder (DCD), Ataxia, Dystonia and Myoclonus: is DCD part of a Movement Disorder Spectrum?
Objective: To explore the underlying pathogenetic mechanisms of Developmental Coordination Disorder (DCD) and compare these with findings in ataxia, dystonia and myoclonus. Background: DCD is…Atypical progression of motor symptoms in Facio-Scapulo-Humeral Dystrophy: clinical worsening or overlap?
Objective: This case highlights the importance of considering possible overlaps with PSP and other neurodegenerative diseases. Background: Facio-Scapulo-Humeral Dystrophy is a common muscular dystrophy featuring…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…Characterization of gait variability of early Parkinson’s disease and multiple system atrophy
Objective: to determine the potential differences in gait characteristics between PD-GBA carriers and non-carriers (idiopathic Parkinson’s disease (iPD)), both mutually and in relation to MSA-P.…
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