Pediatric Neurology
Volume 31, Issue 1 , Pages 59-63 , July 2004

Congenital ataxia and mental retardation in three brothers

  • Lucia Margari, MD

      Affiliations

    • Child Neurological and Psychiatric Service, Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy
    • Corresponding Author InformationCommunications should be addressed to:Dr. Margari; Sezione di Neuropsichiatria Infantile; Dipartimento di Scienze Neurologiche e Psichiatriche; Università degli Studi; Azienda Ospedaliera Policlinico; Piazza Giulio Cesare; CP 70124 Bari, Italy
    • ,
  • Patrizia Ventura, MD

      Affiliations

    • Child Neurological and Psychiatric Service, Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy
    • ,
  • Anna Presicci, MD

      Affiliations

    • Child Neurological and Psychiatric Service, Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy
    • ,
  • Maura Buttiglione, MD

      Affiliations

    • Child Neurological and Psychiatric Service, Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy
    • ,
  • Tommaso Perniola, MD

      Affiliations

    • Child Neurological and Psychiatric Service, Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy

Received 14 August 2003 ,Accepted 12 January 2004.

References 

  1. Bertini E, Campos-Castellò J. Ataxias congénitas de origen genéético con anomalias estructurales del cerebelo. Rev Neurol. 1999;28:63–68
  2. Ruggieri VL, Alberas CL. Hereditary ataxias. Rev Neurol. 2000;31:288–296
  3. Steinlin M. Nonprogressive congenital ataxias. Brain Devel. 1998;20:199–208
  4. Steinlin M, Styger M, Boltshauser E. Cognitive impairments in patients with congenital nonprogressive cerebellar ataxia. Neurol. 1999;53:966–973
  5. Rapoport M, van Reekum R, Mayberg H. The role of the cerebellum in cognition and behavior (Selective review). J Neuropsych Clin Neurosci. 2000;12:193–194
  6. Shevell MI, Majnemer A. Clinical features of developmental disability associated with cerebellar hypoplasia. Pediatr Neurol. 1996;15:224–229
  7. Young ID, Moore JR, Tripp JH. Sex-linked recessive congenital ataxia. J Neurol Neurosurg Psychiatry. 1987;50:1230–1232
  8. Illarioshkin SN, Tanaka H, Markova ED, Nikolskaya NN, Ivanova-Smolenskaya IA, Tsuji S. X-linked nonprogressive congenital cerebellar hypoplasia (Clinical description and mapping to chromosome Xq). Ann Neurol. 1996;40:75–83
  9. Wichman A, Frank LM, Kelly TE. Autosomal recessive congenital cerebellar hypoplasia. Clin Genet. 1985;27:373–382
  10. Al Shahwan SA, Bruyn GW, Al Deeb SM. Non-progressive familiar congenital cerebellar hypoplasia. J Neurol Sci. 1995;128:71–77
  11. Bruck I, Antoniuk SA, Carvalho Neto AD, Spessatto A. Cerebellar vermis hypoplasia–nonprogressive congenital ataxia (Clinical and radiological findings in a pair of siblings). Ar Qneuropsiquiatr. 2000;58:897–900
  12. Bertini E, des Portes V, Vicari S, Dionisi Vici C, Fariello G, Piantadosi C. Congenital X-linked nonprogressive ataxia (Linkage studies in a second family). Ann Neurol. 1997;42:499
  13. Gentile M, Di Carlo A, Susca F, et al.  COACH syndrome: Report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia and mental retardation. Am J Med Genet. 1996;64:514–520
  14. Coppola G, Vajro P, De Virgiliis S, Ciccimarra E, Boccone L, Pascotto A. Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities (Report of three cases). Neuropediatrics. 2002;33:180–185
  15. Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 1999;14:583–591

PII: S0887-8994(04)00091-8

doi: 10.1016/j.pediatrneurol.2004.01.006

Pediatric Neurology
Volume 31, Issue 1 , Pages 59-63 , July 2004

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