Challenges in diagnosis of hereditary ataxia and spastic paraplegias
Objective: We aimed to investigate patients with hereditary ataxias (HA) and spastic paraplegias (HSP) followed in our hospital and to evaluate the percentage of patients…Whole exome sequencing in 62 families with early-onset movement disorders, cerebellar ataxia and hereditary spastic paraplegia from Kazakhstan, Tajikistan, and Azerbaijan
Objective: To report the results of whole-exome sequencing (WES) in 62 families with early-onset movement disorders, cerebellar ataxia, and hereditary spastic paraplegia (HSP) from Kazakhstan,…Phenotype-genotype correlation in a case series from South Spain of Hereditary Spastic Paraplegia 7 (SPG7)
Objective: To describe the phenotype and genotype of patients with confirmed diagnosis of SPG7 Background: Coarelli et al described the possible correlation between genotype and…HSP-SPG5A/CYP7B1: unusual clinical and genetic characteristics in an Indian family
Objective: To carry out a clinical and genetic study of a large Indian family emigrated in Italy with autosomal dominant hereditary spastic paraplegia (ADHSP). Background:…SPG21 in Europe: Mutations outside the Amish community
Objective: We herein report two Austrian families harbouring mutations in the SPG21-gene. Background: SPG21 is a complicated, autosomal recessive hereditary spastic paraplegia. It presents with…Slowly progressive spastic paraplegia due to rare mitochondrial dysfunction: a clinical case
Objective: To present a case of spastic paraparesis associated to a rare mitochondrial disorder. Background: Metabolic disorders may have a clinical course overlapping common neurodegenerative…Pyramidal pathway changes at conventional brain 3T-MRI in patients with hereditary spastic paraplegia
Objective: Our aim was to evaluate the occurrence of motor cortex (MC) and cortico-spinal tract (CST) magnetic resonance imaging abnormalities in patients with hereditary spastic…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…
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