A C12orf65 mutation-related autosomal recessive hereditary spastic paraplegia is associated with autophagy induction
Objective: Spastic paraplegia type 55 (SPG55) is an autosomal recessive complicated HSP caused by homozygous mutation in the C12orf65 gene (613541) on chromosome 12q24. The…CAPN1 mutations are more common than expected in patients with hereditary spastic paraparesis
Objective: To report 4 families with hereditary spastic paraparesis due to CAPN1 mutations. Background: Some years ago, CAPN1 mutations have been described as a cause…Clinical and imagiological features in Portuguese patients with SPG7 mutations
Objective: To better characterize spastic paraplegia type 7 (SPG7) phenotype in a Portuguese cohort of patients. Background: Hereditary spastic paraplegias(HSP) and cerebellar ataxias(CA) are heterogeneous…Hereditary spastic paraparesis plus syndrome associated to a novel FARS2 gene mutation
Objective: To communicate a novel mutation in the phenylalanyl-tRNA synthetase 2 (FARS2) gene causing spastic paraparesis. Background: Hereditary spastic paraplegias (HSP) are a complex group…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…A novel p.Trp42Arg REEP1 mutation associated with autosomal recessive Distal spinal muscular atrophy with vocal cord and diaphragmatic paralysis
Objective: To present a patient with homozygous mutation in Receptor Expression-Enhancing Protein 1 (REEP1) gene manifesting a severe congenital Distal spinal muscular atrophy (SMA) with…The Genetic Basis of paediatric movement disorders: experience from the SYNaPS Study
Objective: To identify genetic causes of paediatric movement disorders in a large multi-ethnic cohort of patients by genetic investigations. Background: Pediatric movement disorders which are…Novel p.Pro193Arg missense mutation in ABCD1-gene associated with phenotype of ALD/AMN: a case report
Objective: To describe a novel mutation p.Pro193Arg of the ABCD1-Gene in a patient presenting with clinical phenotype of Adrenomyeloneuropathy (AMN). Background: Adrenoleukodystrophy comprises progressive neurologic…Characterization of cerebrospinal fluid profile in hereditary spastic paraparesis 10
Objective: Perform a comprehensive clinical characterization and biochemical cerebrospinal fluid (CSF) profile analyses in two Swedish families with hereditary spastic paraparesis 10 (SPG10) caused by…A case report of two siblings Aicardi-Goutières Syndrome type 2
Objective: To report two sisters with late diagnosis of Aicardi-Goutières Syndrome 2. Background: Aicardi-Goutières Syndrome (AGS) is a rare encephalopathy characterized by basal ganglia calcification,…
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