Combined neurodegenerative disease associated with mutations in SLC5A7 and TGM6 genes

Abstract

Introduction. Hereditary neurodegenerative diseases are a large genetic deterministic group of nosologies, which is based on the clinic of steadily progressing processes of destruction of neuronal systems. Damage to the nervous system can have various combinations, but the most common are atrophy of the cerebellum, brain stem, spinal cord columns, and also possible damage to the peripheral nervous system. Despite the classical descriptions of the clinical picture of various forms of neurodegenerative pathology and the corresponding genetic markers of the disease, in the practice of a neurologist, there are cases that are difficult to determine the nosological form of the disease.Materials and methods. The article describes a case of combined hereditary pathology associated with laboratory-confirmed mutations in the SLC5A7 genes (associated with the development of type 7A hereditary motor sensory neuropathy) and TGM6 (affecting the development of type 35 spinocerebellar ataxia) and the clinical picture of lower spastic paraplegia.Results. The clinical case presents a combined form of hereditary spastic paraplegia with pseudobulbar syndrome, mild motor-sensory neuropathy of the lower extremities, signs of cerebellar hypotrophy on MRI and moderate impairment of walking and speech function against the background of two mutations previously identified in type 35 spinocerebellar ataxia and hereditary motor-sensory ataxia of type 35 type 7A neuropathy.Discussion. Diagnosis of nosological forms of hereditary pathology, manifested by a combination of lesions of the peripheral and central nervous systems, requires a detailed analysis of the hereditary history, neurological status and genetic examination results from a neurologist.Conclusion. The clinical case demonstrates polymorphism of clinical manifestations of hereditary forms of neurodegenerative pathology and a possible combination of various phenotypic and genotypic variants.