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.…Whole-Body Neuromuscular Ultrasound for Evaluating Posture and Targeted Management of Muscle Spasticity and Pain
Objective: The aim was to assess efficacy of whole body neuromuscular ultrasound to evaluate posture and targeted management of muscle spasticity and pain. Background: Muscle…Spastic Paraplegia Type 64: a Case Series
Objective: to present four cases (two families) with a likely diagnosis of spastic paraplegia type 64 (SPG 64), broadening this disease phenotype. Background: SPG64 is…Neuropathological findings in a SPG4 gene mutation carrier
Objective: To describe the clinical and neuropathological findings of a patient carrier of a mutation in the SPG4 gene. Background: Hereditary spastic paraplegia (HSP) linked…Associated movements disorders to Hereditary Spastic Paraplegia (HSP) in a case series from South Spain
Objective: Describe different movement disorders associated with HSP in a series from the south Spain. Background: HSP englobe a heterogeneous group of diseases. Different movement…Hereditary spastic paraplegia 11 is easy to be misdiagnosed as adult metachromatic leukodystrophy
Objective: To report a case of a 32-year-old woman with progressive spastic paraparesis who was misdiagnosed initially as adult onset metachromatic leukodystrophy (MLD) Background: MLD…Clinical and genetic heterogeneity in portuguese patients with Hereditary Spastic Paraplegia
Objective: To characterize the demographic, clinical and genetic features of HSP and to define the phenotypic spectrum and genotype-specific differences. Background: Hereditary spastic paraplegia (HSP)…Biological course and natural history of hereditary spastic paraplegia type 11 (SPG11)
Objective: We aim to establish biological markers for the natural history and course of hereditary spastic paraplegia (HSP) type 11 (SPG11) using multiple readout parameters…Spastic paraplegia type 4: a novel SPAST splice site donor mutation and expansion of the phenotype variability
Objective: The aim of this study is to reveal molecular pathogenicity and genotype-phenotype correlations in spastic paraplegia type 4 (SPG4). Background: Mutations in SPG4/SPAST represent…Glut-1 deficiency: a case report
Objective: To report the case of a patient with refractory seizures who was diagnosed with Glut-1 deficiency. Background: Although Epilepsy is commonly diagnosed by child…
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