A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia

Emekli A. S., Samanci B., Simsir G., Hanagasi H. A., Gurvit H., Bilgic B., ...Daha Fazla

NEUROLOGICAL SCIENCES, sa.4, ss.1535-1539, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1007/s10072-020-04869-6
  • Dergi Adı: NEUROLOGICAL SCIENCES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CINAHL, EMBASE, Index Islamicus, MEDLINE, Psycinfo
  • Sayfa Sayıları: ss.1535-1539
  • Anahtar Kelimeler: Holmes tremor, PNPLA6 mutation, Spastic ataxia, BOUCHER-NEUHAUSER, GENE
  • İstanbul Üniversitesi Adresli: Evet

Özet

Autosomal recessive cerebellar ataxias are a group of rare neurological diseases with a genetic origin. Recently, the mutations in the PNPLA6 gene were suggested to lead to ataxia and also to other specific syndromes such as Boucher-Neuhauser (ataxia, hypogonadism, and chorioretinal dystrophy) or Gordon-Holmes Syndromes (ataxia, hypogonadism, and brisk reflexes) within a broad spectrum of neurodegenerative diseases. Here we report three patients from a single-family with a novel pathogenic mutation in the PNPLA6 gene which led to predominantly spastic-ataxia, and intractable Holmes tremor. The PNPLA6-related disease should be considered in the differential diagnosis of spastic-ataxias even in the absence of chorioretinal dystrophy, and hypogonadotropic hypogonadism. Further studies should unravel the factors which account for the phenotypic variability present in patients with PNPLA6 gene mutations.