PEX 16: EXPANDING THE CLINICAL SPECTRUM OF PEROXISOMAL BIOGENESIS DISORDERS
Objective: IDENTIFICATION OF A NOVEL PEX 16 GENE MUTATION IN A YOUNG PATIENT WITH SLOWLY PROGRESSIVE ATAXIA AND SPASTICITY. Background: PEROXISOMAL BIOGENESIS DISORDERS(PBD) ARE CHARACTERIZED…Case Report: Co-occurrence of Motor Neuron Disease and Parkinsonism
Objective: Explore possible links between degenerative parkinsonism and motor neuron disease Background: A 50 year-old man developed with the cardinal features of parkinsonism. History was…Natural History of Movement Abnormalities on Hereditary Spastic Paraplegia: validation of timed functional instruments
Objective: To evaluate the natural history of Hereditary Spastic Paraplegia (HSPs) and to define sensitivity to change, minimal clinically important difference (MCID) and validity of…Adaptor Protein Complex 4-associated Hereditary Spastic Paraplegia (AP-4-HSP): A Paradigm of Childhood-Onset Hereditary Spastic Paraplegia Caused By Defective Protein Trafficking
Objective: Aims of this study include: 1) to generate induced pluripotent stem cell (iPSC)-derived neurons from patients with AP-4-associated HSP; 2) to characterize these neurons…Loss of paraplegin drives spasticity rather than ataxia in SPG7: A European cohort analysis of 238 patients
Objective: The aim of this work was to delineate the clinical phenotype of SPG7 patients, integrating genetic data and follow-up examinations, taking advantage of a…Kufor-Rakeb syndrome and a rare ATP13A2 missense mutation in a Portuguese patient
Objective: To describe a genetically proven case of Kufor-Rakeb syndrome (KRS) in a young portuguese patient with juvenile parkinsonism. Background: Mutations in the ATP13A2 gene…Hereditary spastic paraplegia presenting as limb dystonia with a novel SPG7 mutation
Objective: We present a case of a patient who presented with limb dystonia and was found to have HSP associated with a previously unreported compound…A new SPG4/SPAST mutation in an Italian family with hereditary spastic paraplegia and Alzheimer’s disease
Objective: To perform a clinical and a genetic study in an Italian family with a complicated form of hereditary spastic paraplegia (HSP) and Alzheimer’s disease…A new distinct spastic ataxia with hypomyelination: Clinical, neuroimaging and molecular expression of NKX6-2 mutations
Objective: To identify the phenotypic, neuroimaging and genotype-phenotype expression of NKX6-2 mutations. Background: Despite advances in genetic testing a large number of hyopomyelinating disorders remain…Compound-heterozygous mutations in VPS13D are a novel cause of spastic ataxia and lead to mitochondrial dysfunction
Objective: To identify the genetic cause in two sisters with spastic ataxia and to functionally characterize mitochondrial function in patient-derived cells. Background: Spastic ataxia is…
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