Advertisement
Research Article| Volume 64, ISSUE 1, P89-97, April 1984

Familial intermittent ataxia with possible X-linked recessive inheritance

Two patients with abnormal pyruvate metabolism and a response to acetazolamide
DOI:https://doi.org/10.1016/0022-510X(84)90059-5
Familial intermittent ataxia with possible X-linked recessive inheritance
Previous ArticleSevere muscular dystrophy in girls
Next ArticleThe discovery of neuronopathy and neuropathy as a cause of progressive paralysis in childhood
      This paper is only available as a PDF. To read, Please Download here.

      Abstract

      Five males in one kindred suffered from intermittent ataxia and one female may have been more mildly affected. The pattern of inheritance strongly suggests X-linkage. Cerebral pathology in one case had some features of Leigh's disease. A defect in pyruvate metabolism was found in two cases.
      Acetazolamide gave a temporary clinical and biochemical improvement in two cases.

      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 Journal of the Neurological Sciences
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Register: Create an account
      Institutional Access: Sign in to ScienceDirect

      References

        • Blass J.P.
        Disorders of pyruvate metabolism.
        Neurology. 1979; 29: 280-286
        • Blass J.P.
        • Avigan J.
        • Uhlendorf B.W.
        A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.
        J. Clin. Invest. 1970; 49: 423-432
        • Blass J.P.
        • Kark R.A.P.
        • Engel W.K.
        Clinical studies of a patient with pyruvate decarboxylase deficiency.
        Arch. Neurol. (Chic.). 1971; 25: 449-461
        • Blass J.P.
        • Kark R.A.P.
        • Menon N.K.
        • Harris S.E.
        Low activity of the pyruvate and oxoglutarate dehydrogenase complex in five patients with Friedreich's ataxia.
        N. Engl. J. Med. 1976; 295: 62-67
        • Donat J.R.
        • Auger R.
        Familial periodic ataxia.
        Arch. Neurol. (Chic.). 1979; 36: 568-569
        • Evans O.B.
        • Kilroy A.W.
        • Fenichel G.M.
        Acetazolamide in the treatment of pyruvate dysmetabolism syndromes.
        Arch. Neurol. (Chic.). 1978; 35: 302-305
        • Falk R.E.
        • Cederbaum S.D.
        • Blass J.P.
        • Gibson G.E.
        • Kark R.A.P.
        • Carrel R.E.
        Ketogenic diet in the management of pyruvate dehydrogenase deficiency.
        Pediatrics. 1976; 58: 713-721
        • Farmer D.W.
        • Mustian V.M.
        Vestibulo-cerebellar ataxia.
        Arch. Neurol. (Chic.). 1963; 8: 471-480
        • Filla A.
        • Butterworth R.F.
        • Geoffroy G.
        • Lemieux B.
        • Barbeau A.
        Serum and platelet lipoamide dehydrogenase in Friedreich's ataxia.
        Canad. J. Neurol. Sci. 1978; 5: 111-114
        • Greene H.L.
        • Schubert W.K.
        • Herg G.
        Chronic lactic acidosis of infancy.
        J. Paediatrics. 1970; 76: 853-860
        • Hill W.
        • Sherman H.
        Acute intermittent familial cerebellar ataxia.
        Arch. Neurol. (Chic.). 1968; 18: 350-357
        • Hommes F.A.
        • Berger R.
        • Luit-De Haan G.
        The effect of thiamine treatment on the activity of pyruvate dehydrogenase — Relation to the treatment of Leigh's encephalomyelopathy.
        Pediatr. Res. 1973; 7: 616-619
        • Hommes F.A.
        • Polman H.A.
        • Reevink J.D.
        Leigh's encephalomyelopathy — An inborn error of gluconeogenesis.
        Arch. Dis. Childhood. 1968; 43: 423-426
        • LaFrance R.
        • Griggs R.
        • Moxley R.
        • McQuillen J.
        Hereditary paroxysmal ataxia responsive to acetazolamide.
        Neurology. 1977; 27: 370
        • Lonsdale D.
        • Faulkner W.R.
        • Price J.W.
        • Smeby R.R.
        Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia and hyperalaninuria.
        Pediatrics. 1969; 43: 1025-1034
        • McKusick V.A.
        Mendelian Inheritance in Man.
        6th edition. Johns Hopkins University Press, Baltimore1983
        • Parker H.L.
        Periodic ataxia.
        in: Hewlett R.M. Nevling A.B. Minor J.R. Collected Papers of the Mayo Clinic. Saunders, Philadelphia1946: 642-645
        • Pelley J.W.
        • Little G.H.
        • Linn T.C.
        • Hall F.F.
        Lipoamide dehydrogenase in serum — A preliminary report.
        Clin. Chem. 1976; 22: 275-277
        • Phenix P.
        • Welbourne T.C.
        Renal glutaminases — Diamox inhibition of glutamyltransferase.
        Amer. J. Physiol. 1975; 228: 1269-1275
        • Reynolds S.F.
        • Blass J.P.
        A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency.
        Neurology. 1976; 26: 625-628
        • Salam M.
        Metabolic ataxias.
        in: Handbook of Clinical Neurology. Vol. 21. North-Holland, Amsterdam1975: 573-585
        • Sogg R.L.
        • Hoyt W.F.
        Intermittent vertical nystagmus in a father and son.
        Arch. Ophthal. 1962; 68: 515-517
        • White J.C.
        Familial periodic nystagmus, vertigo and ataxia.
        Arch. Neurol. (Chic.). 1969; 20: 276-280
        • Wick H.
        • Schweizer K.
        • Baumgartner R.
        Thiamine dependency in a patient with lactic acidemia due to pyruvate dehydrogenase deficiency.
        Agents and Actions. 1978; 7: 405-410

      Article info

      Identification

      DOI: https://doi.org/10.1016/0022-510X(84)90059-5

      Copyright

      © 1984 Published by Elsevier Inc.

      ScienceDirect

      Access this article on ScienceDirect

      The content on this site is intended for healthcare professionals.


      We use cookies to help provide and enhance our service and tailor content. To update your cookie settings, please visit the Cookie Preference Center for this site.
      Copyright © 2023 Elsevier Inc. except certain content provided by third parties.


      RELX