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…Phenotype of PLP1-related disorder caused by novel mutation: a case report
Objective: To illustrate phenotype of PLP1-related disorder caused by a novel mutation. Background: Phenotypes of X-linked PLP1-related disorders vary from severe forms of hypomyelinating leukodystrophy-Pelizaeus–Merzbacher…Genotype-Phenotype correlations and expansion of the molecular spectrum of AP4M1-related Hereditary Spastic Paraplegia
Objective: To identify possible novel variants in a HSP family from Greece. Background: Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a…Effect of Valproic Acid on Dystonia in a patient with Traumatic Brain Injury: a case report.
Objective: Valproic Acid, a branched short chain fatty acid, is widely used as an epileptic drug and mood stabilizer [1]. Its mechanism of action is…
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