Prevalence of Oropharyngeal Dysphagia in Hereditary Spastic Paraplegias
Objective: We aimed to assess the prevalence of swallowing disorder and to characterize the main clinical signs of dysphagia in genetically confirmed HSP patients. Background:…Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
Objective: We aimed to characterize cognitive functions of patients with pure and complicated HSP, and to determine the frequency of abnormal cognitive performances in the…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…The Clinical, Molecular and Radiographic Spectrum of Adaptor Protein Complex 4-associated Hereditary Spastic Paraplegia (AP-4-HSP): Results from the AP-4-HSP International Registry
Objective: 1) To develop a registry and natural history study for AP-4-HSP; 2) to define core clinical and radiographic features; 3) to explore genotype-phenotype correlations.…Symptomatic treatment of hereditary spastic paraplegias with fampridine: a pilot study
Objective: Study the effect of fampridine in gait outcomes in patients with hereditary spastic paraplegia (HSP). Background: Fampridine acts through blockade of voltage-gated potassium channels,…Spastic ataxia and pseudo eye-of-the-tiger sign in a familiy with a novel compound heterozygous AFG3L2 mutations
Objective: Identify by exome sequencing (ES) the underlying etiology of spastic ataxia and pseudo eye-of-the-tiger sign (EOT) in 4 siblings. Background: The EOT is a…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…
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