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

Frontiers in Neurology

Neurology

Gong-Qiang Wang¹  Ping Jin¹  Na Nian¹  Yu Wang¹  Xiao-Ming Fu² 

[1] Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China;Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China;Institute of Neurology, Anhui University of Chinese, Hefei, China;

关键词: AP5Z1;    SPG48;    azoospermia;    impaired hearing;    brain MRI;   

DOI  :  10.3389/fneur.2023.1156100

 received in 2023-02-01, accepted in 2023-03-21,  发布年份 2023

来源: Frontiers

【 摘 要 】

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 AP5Z1, 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. The Sanger sequencing revealed a homozygous deletion in the chr 7:4785904-4786677 region causing a premature stop codon in exon 10. The patient's brother was heterozygous for the mutation. The brain magnetic resonance imaging found a mild brain atrophy and white matter lesions. In the analysis of the auditory thresholds, we found a significant hearing decrease in both ears.

【 授权许可】

Unknown   
Copyright © 2023 Jin, Wang, Nian, Wang and Fu.