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Título

Family with HSP 75 phenotype due to MAG gene variant

RESUMO

Case Presentation: A 47-years-old man presented with a slowly progressive history of weakness in the left lower limb since age 35 years. After 1 year, he noticed involvement of the right lower limb, with gradual worsening of gait. Subsequently, onset of paresthesia in the feet associated with episodes of urge urinary incontinence. It has alpha-1 antitrypsin deficiency. In the family history, the father had a history of progressive spastic paraparesis, starting at age 60 years, with recurrent falls associated with cognitive decline over 7 years and urinary incontinence. He later progressed with dysarthrophonia and dysphagia, and death occurred 14 years after the onset of motor symptoms. Parental consanguinity was not related. The examination disclosed crural paraparesis, global hyperreflexia, spasticity in the dorsiflexion of the feet, hypoesthesia in the left foot and bilateral positive Babinski sign. Biopse of muscle is unremarkable. A genetic panel was collected, showing a genetic variant of uncertain significance (with "in silico" prediction of pathogenicity) heterozygous mutation in MAG (Myelin Associated Glycoprotein). Thus, we concluded that our family presented hereditary spastic paraplegia 75 (HSP – 75) with cognitive involvement by the MAG gene. Discussion: Hereditary spastic paraplegias (HSP) are a heterogeneous group of neurodegenerative diseases and more than 70 genes have been implicated. Although most variant contexts occur in an autosomal recessive scenario in HSP75, previous descriptions (adult-onset spastic paraparesis, action tremor in the hands, cognitive decline) with an autosomal dominant inheritance pattern have already been reported and justify the presented clinical context by patients. Final comments:
Clinicians should be aware of the possibility of HSP75 presentation by the MAG gene in the context of autosomal dominant inheritance.

Palavras Chave

MAG gene; HSP 75

Área

Doenças Neuromusculares