Advertisement

Quadrupedal gait and cerebellar hypoplasia, the Uner Tan syndrome, caused by ITPR1 gene mutation

      Uner Tan syndrome is a rare neurological disorder characterized by quadrupedal gait, variable degrees of cognitive impairment and speech problems [
      • Tan U.
      Uner tan syndrome: history, clinical evaluations, genetics, and the dynamics of human quadrupedalism.
      ]. The pathophysiological mechanisms underlying quadrupedal gait in Uner Tan syndrome include heterogeneous etiopathogenetic features, brain defects, vestibular impairment, and environmental and cultural elements [
      • Tan U.
      Uner tan syndrome: history, clinical evaluations, genetics, and the dynamics of human quadrupedalism.
      ,
      • Tan ner
      • Tamam Y.
      • Karaca S.
      • T M.
      Üner tan syndrome: review and emergence of human quadrupedalism in self-organization, attractors and evolutionary perspectives.
      ,
      • Wali G.
      Two Indian families with quadrupedal locomotion resembling uner tan syndrome: a video document.
      ]. To date, mutations in VLDLR, WDR81, CA8, ATP8A2 and TUBB2B genes have been described as genetic causes of quadrupedal gait [
      • Breuss M.W.
      • Nguyen T.
      • Srivatsan A.
      • Leca I.
      • Tian G.
      • Fritz T.
      • et al.
      Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
      ]. However, many patients with Uner Tan syndrome remain without a specific genetic diagnosis, and are frequently considered a phenotypic variability of cerebral palsy. Herein we describe a variant in ITPR1 gene in a Brazilian patient as a cause of Uner Tan syndrome.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Parkinsonism & Related Disorders
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Tan U.
        Uner tan syndrome: history, clinical evaluations, genetics, and the dynamics of human quadrupedalism.
        Open Neurol. J. 2010; 4: 78-89
        • Tan ner
        • Tamam Y.
        • Karaca S.
        • T M.
        Üner tan syndrome: review and emergence of human quadrupedalism in self-organization, attractors and evolutionary perspectives.
        Latest Find Intellect Dev Disabil Res. 2012; 1: 1-52
        • Wali G.
        Two Indian families with quadrupedal locomotion resembling uner tan syndrome: a video document.
        Mov Disord Clin Pract. 2017; 4: 49-50
        • Breuss M.W.
        • Nguyen T.
        • Srivatsan A.
        • Leca I.
        • Tian G.
        • Fritz T.
        • et al.
        Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
        Hum. Mol. Genet. 2017; 26: 258-269
        • Karaca S.
        • Tan M.
        • Tan U.
        Human quadrupedalism is not an epiphenomenon caused by neurodevelopmental malformation and ataxia.
        Front. Neurol. 2012; OCT: 2-4
        • Tan Ü.
        • Pençe S.
        • Yilmaz M.
        • Özkur A.
        • Karaca S.
        • Tan M.
        • et al.
        “Unertan syndrome” in two Turkish families in relation to devolution and emergence of homo erectus: neurological examination, MRI, and PET scans.
        Int. J. Neurosci. 2008; 118: 313-336
        • Das J.
        • Lilleker J.
        • Shereef H.
        • Ealing J.
        Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: description of an affected family and literature review.
        Neurol Neurochir Pol [Internet]. 2017; 51: 497-500