Hereditary spastic paraplegia (SPG 48) with deafness and azoospermia: A case report.

Hereditary spastic paraplegias (HSP) are inherited neurodegenerative disorders characterized by progressive paraplegia and spasticity in the lower limbs. SPG48 represents a rare genotype characterized by mutations in , a gene playing a role in intracellular membrane trafficking. This study describes a case of a 53-year-old male patient with SPG48 presenting spastic paraplegia, infertility, hearing impairment, cognitive abnormalities and peripheral neuropathy.

Polyglucosan body myopathy 1 may cause cognitive impairment: a case report from China.

Background: Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease that can cause skeletal muscle myopathy and cardiomyopathy with or without immunodeficiency due to a pathogenic mutation in the RBCK1 gene. PGBM1 has been reported in only 14 European and American families, and no cognitive impairment phenotype was reported. Its prevalence in Asia is unknown.

[Analysis of a cerebrotendinous xanthomatosis case with mental retardation as the initial symptom].

Objective: To analyze a case of cerebrotendinous xanthomatosis (CTX) with mental retardation as the initial neurological symptom.

Methods: Medical imaging, histopathological assay and genetic testing were carried out to analyze the patient.

Results: Neurological manifestations of the 27-year-old male patient were initiated by mental retardation and subsequently memory lapses, ataxia, spastic paraplegia and fuzzy language.