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A Tentative Classification of Recessively Inherited Ataxias

Published online by Cambridge University Press:  18 September 2015

André Barbeau
André Barbeau*
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal, Quebec, Canada, H2W 1R7
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Abstract:

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We present a working classification of recessively inherited ataxic syndromes based on the use of simple tools available to every clinician: a good history (particularly pinpointing the age of onset) and a good neurological examination (simplified to the verification of the presence of ataxia, deep tendon reflexes in the knee, optic nerve, retinal and/or 8th nerve signs). In the three groups of disorders (non progressive, intermittent or progressive) patients can be hyper/normo reflexic, or they can be hypolareflexic. Six principal types of progressive ataxic disorders are further delineated by the age of onset. Sub-types depend on the presence or absence of eye and ear signs, whereas eponymic or regional denominations are used only for simplicity while awaiting exact delineation of the biochemical defects.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 9 , Issue 2 , May 1982 , pp. 95 - 98
Copyright
Copyright © Canadian Neurological Sciences Federation 1982

References

REFERENCES

1.Barbeau, A. (1980) Distribution of Ataxia in Quebec, in Spinocerebellar Degenerations (Ed. I. Sobue). Univ. Tokyo Press, pp. 121–141.Google Scholar
2.Barbeau, A.; Bouchard, J.P.; Bouchard, R.; Pourcher, E. and Andermann, F. (1982) A large family with a multitude of recessively inherited ataxia phenotypes (The Beauce Syndrome). In preparation.Google Scholar
3.Baron, D.N.; Dent, C.E.; Harris, H.; Hart, E.W. and Jepson, J.B. (1956) Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino aciduria, and other bizarre biochemical features. Lancet 2: 421–428.CrossRefGoogle Scholar
4.Bassen, F.A. and Kornzweig, A.L. (1950) Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 5:381–386.CrossRefGoogle Scholar
5.Batten, F.E. (1905) Ataxia in childhood. Brain 28: 484–505.CrossRefGoogle Scholar
6.Bell, J.M. and Carmichael, E.A. (1939) On hereditary ataxia and spastic paraplegia. Treas. Hum. Inherit. 4: 141–281.Google Scholar
7.Berman, W.; Haslam, R.H.A.; Konigsmark, B.W.; Capute, A.J. and Migeon, C.J. (1973) A new familial syndrome with ataxia, hearing loss, and mental retardation. Arch. Neurol. 29: 258–261.CrossRefGoogle ScholarPubMed
8.Bernabo’Brea, G.; Rathschuler, R. and Rasore-Quartino, A. (1966) Familial ataxia with peroneal muscular atrophy and optic atrophy. Riv. Oto-Neuro-Oftal. 41: 273–290.Google ScholarPubMed
9.Blass, J.P.; Avigan, J. and Uhlendorf, B.W. (1970) A defect in pyruvate decarboxylase in a child with intermittent movement disorder. J. Clin. Invest. 49: 423–432.CrossRefGoogle Scholar
10.Bouchard, J.P.; Barbeau, A.; Bouchard, R. and Bouchard, R.W. (1978) Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can. J. Neurol. Sci. 5:61–69.CrossRefGoogle ScholarPubMed
11.Bouchard, J.P., Barbeau, A.; Bouchard, R.; Paquet, M. and Bouchard, R.W. (1979). A cluster of Friedreich’s ataxia in Rimouski, Quebec. Can. J. Neurol. Sci. 6: 205–208.CrossRefGoogle ScholarPubMed
12.Croft, P.B.; Cutting, J.C.; Jewesbury, E.C.O.; Blackwood, W. and Mair, W.G.P. (1977) Ocular myopathy (progressive external ophtholmoplegia) with neuropathic complications. Acta Neurol. Scandina. 55: 169–197.CrossRefGoogle ScholarPubMed
13.Cross, H.E. and Mckusick, V.A. (1967) The Troyer syndrome: a recessive form of spastic paraplegia with distal muscle wasting. Arch. Neurol. 16: 473–485.CrossRefGoogle ScholarPubMed
14.Elsas, L.J.; Priest, J.H.; Wheeler, F.B.; Danner, D.J. and Pask, B.A. (1974) Maple Syrup Urine Disease: coenzyme function and prenatal monitoring. Metabolism 23: 569–579.CrossRefGoogle ScholarPubMed
15.Franceschetti, A.; Francois, J.; Babel, J.; De Rouck, A.; Dieterle, P.; Forni, S.; Klein, D.; Ricci, A. and Verriest, G. (1963) Les hérédo-dégéné-rescences choroido-rétiniennes (Dégénérescences tapéto-rétiniennes), Masson, Paris.Google Scholar
16.Garcin, R. and Man, H.X. (1958) Sur la lenteur particulière des mouvements conjugués des yeux observée fréquemment dans les dégénérations cérébelleuses et spino-cérébelleuses: la viscosité des mouvements volontaires. Revue Neurol. (Paris) 98: 672–689.Google Scholar
17.Geoffroy, G.; Barbeau, A.; Breton, G.; Lemieux, B.; Aube, M.; Leger, C. and Bouchard, J.P. (1976) Clinical description and roentgenologic evaluation of patients with Friedreich’s ataxia. Can. J. Neurol. Sci. 3: 279–286.CrossRefGoogle ScholarPubMed
18.Gillespie, F.D. (1965) Aniridia, cerebellar ataxia and oligophrenia in siblings. Arch. Ophthal. 73:338–341.CrossRefGoogle ScholarPubMed
19.Greenfield, J.G. (1954) The spinocerebellar degenerations. Springfield, Illinois.Google Scholar
20.Gustavson, K.H.; Hagberg, B. and Sanner, G. (1969) Identical syndromes of cerebral palsy in the same family. Acta Paediat. Scan. 58: 330–340.CrossRefGoogle ScholarPubMed
21.Hallgren, B. (1959) Retinitis pigmentosa combined with congenital deafness, vestibulocerebellar ataxia and mental abnormality in a proportion of cases. Acta Psychiat. Scand. Suppl. 34: 138.Google Scholar
22.Harding, A.E. (1981) Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich’s ataxia. J. Neurol. Neurosurg. Psychiat. 44: 503–508.CrossRefGoogle ScholarPubMed
23.Heller, I. and Robb, P. (1955) Hereditary sensory neuropathy. Neurology (Min-n.) 5: 15–29.CrossRefGoogle ScholarPubMed
24.Horoupian, D.; Zucher, S. and Moshe, O.K. (1979) Behr syndrome: a clinico-pathologic report. Neurology 29: 323.CrossRefGoogle Scholar
25.Hould, F. and Verret, S. (1967) Neuropathie radiculaire héréditaire avec pertes de sensibilité: étude d’une famille canadienne-française. Laval Méd. 38: 454–459.Google Scholar
26.Jeune, M.; Tommasi, M.; Freycon, F. and Nivelon, J. (1963) Syndrome familial associant ataxie, surdité et oligophrenic Sclérose myocardique d’évolution fatale chez l’un des enfants. Pédiatrie 18: 984–987.Google Scholar
27.Kjellin, K.G. (1959) Familial spastic paraplegia with amyotrophy, oligophrenia and central retinal degeneration. Arch. Neurol. (Chic.) 1: 133–140.CrossRefGoogle ScholarPubMed
28.Konigsmark, B.W. and Weiner, L.P. (1970) The olivopontocerebellar atrophies: a review. Medicine 49: 227–233.CrossRefGoogle ScholarPubMed
29.Lamy, M.; Grasset, A.; Jammet, M.-L. and Viard, F.R. (1963) L’ataxie cérébelleuse héréditaire de l’enfance. Arch. franc. Pédiat. 20:5–15.Google Scholar
30.Lesch, M. and Nyhan, W.L. (1964) A familial disorder of uric acid metabolism and central nervous system function. Am. J. Med. 36:561–570.CrossRefGoogle ScholarPubMed
31.Louis-Bar, D. (1941) Sur un syndrome progressif comprenant des télangiectasies capillaires cutanées et conjonctivales symétriques, à disposition naevoide et de troubles cérébelleux. Confín, neurol. (Basel) 4: 32–42.Google Scholar
32.Lundberg, P.O. (1971) Hereditary polyneuropathy, oligophrenia, premature menopause and acromicria. Eur. Neurol. 5: 84–98.CrossRefGoogle ScholarPubMed
33.Marinesco, G.; Dragonesco, S. and Yasilin, D. (1931) Nouvelle maladie familiale caractérisée par une cataracte congénitale et un arrêt du développement somato-neuro-psychique. Encéphale 26: 97–109.Google Scholar
34.Mathews, W.G. and Rundle, A.T. (1964) Familial cerebellar ataxia and hypogonadism. Brain 87: 463–468.CrossRefGoogle Scholar
35.Popovic-Rolovic, M.; Calicperisic, N. and Bunjevacki, G. (1976) Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebel lar ataxia, and skeletal abnormalities. Arch. Dis. Child. 51:801–805.CrossRefGoogle Scholar
36.Refsum, S. (1946) Heredopathia atactica polyneuritiformis: a familial syndrome not hitherto describes. A contribution to the clinical study of the hereditary diseases of the nervous system. Acta, psychiat. Scand., Suppl. 38: 1–303.Google Scholar
37.Refsum, S. and Skillicorn, S.A. (1954) Amyotrophic familial spastic paraplegia. Neurology (Minn). 4: 40–47.CrossRefGoogle ScholarPubMed
38.Richards, F.; Cooper, M.R. and Pearce, L.A. (1974) Familial spinocerebellar degeneration, hemolytic anemia, and glutathione deficiency. Arch. Int. Med. 134: 534.CrossRefGoogle ScholarPubMed
39.Riley, C.M.; Day, R.L.; Greeley, D.M.; and Langford, W.S. (1949) Central autonomic dysfunction with defective lacrimation. I. Report of five cases. Pediatrics 3: 468.CrossRefGoogle ScholarPubMed
40.Salam, M. (1975) Metabolic ataxias, in Handbook of Clinical Neurology (Ed. Vinken, P.J. and Bruyn, G.W.) Vol. 2, pp. 573–585.Google Scholar
41.Sanner, G. (1973) The dysequilibrium syndrome. A genetic study. Neuropédiatrie 4:403–413.CrossRefGoogle ScholarPubMed
42.Schwarz, G.A. (1952) Hereditary (familial) spastic paraplegia. Arch. Neurol. Psychiat. (Chic.) 68: 655–682.CrossRefGoogle ScholarPubMed
43.Schwarz, G.A. (1956) Hereditary (familial) spastic paraplegia. Further clinical and pathologic observations. Arch. Neurol. Psychiat. (Chic.) 75: 144–162.CrossRefGoogle ScholarPubMed
44.Sjogren, T. (1943) Klinische and erbbiologische untersuchungen uber die heredoataxien. Acta Psychiat. (Kbh), Suppl. 27: 1–197.Google Scholar
45.Sjogren, T. (1950) Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia. Convin. Neurol. (Basel) 10:293–308.CrossRefGoogle ScholarPubMed
46.Sjogren, T. and Larsson, T. (1957) Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiat. Neurol. Scand. 32: suppl. 113: 1–112.Google Scholar
47.Skre, H. (1974) Genetic and clinical aspects of Charcot-Marie-Tooth’s disease. Clin. Genet. (Copenhagen) 6: 98–118.CrossRefGoogle ScholarPubMed
48.Van Bogaert, L. and Moreau, H. (1939) Combinaison de l’amyotrophie de Charcot-Marie-Tooth et de la maladie de Friedreich chez plusieurs membres d’une même famille. Encéphale 34: 312–320.Google Scholar