Degenerative neurological diseases of central nervous system related to genetic neurolipidoses;État actuel des maladies dégénératives du système nerveux central liées à des neurolipidoses d'origine génétique

Bulletin de l'Academie Nationale de Medecine

Volumn 187, Issue 1, 2003, Pages 141-152

  Baumann, Nicole ^a   Turpin, Jean Claude ^b   Lefevre, Mireille ^b   Colsch, Benoît ^b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b NONE

Author keywords

Central nervous system diseases; Genetic diseases, Inborn; Lipoidosis; Metabolic diseases; Neurodegenerative diseases

Indexed keywords

ADOLESCENT; ADULT; AGE; CHILD; COMPARATIVE STUDY; DEMYELINATING DISEASE; DIFFERENTIAL DIAGNOSIS; GENETICS; GENOTYPE; HUMAN; LIPIDOSIS; METABOLISM; PHENOTYPE; REVIEW;

ADOLESCENT; ADULT; AGE FACTORS; CHILD; DIAGNOSIS, DIFFERENTIAL; GENOTYPE; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; LIPIDOSES; PHENOTYPE; SPHINGOLIPIDOSES;

EID: 0642275451     PISSN: 00014079     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0001-4079(19)34087-7     Document Type: Article

References (36)

1. BARBEY F., LIDOVE O., DROZ D., GRUNFELD J.P. - Maladie de Fabry : aspects cliniques et perspectives thérapeutiques. Schweiz. Med. Wochenschr, 2000, 130, 763-771.
2. BATAILLARD M., RICHARD P., RUMBACH L., VANIER M.T., TRUTTMANN M. - Paraparésie spastique isolée révélant une maladie de Krabbe à l'âge adulte. Rev. Neuro., (Paris), 1997, 153, 347-350.
3. BAUMANN N., TURPIN J.C. - Adult-onset leukodystrophies. J. Neurol., 2000, 247, 751-759.
4. BAUMANN N., LEFEVRE M., TURPIN J.C., FONTAINE B., HOSSEINI H., AERTS H., et al. - Atypical course of neuronopathic Gaucher's disease : follow-up from early infancy until adulthood. J. Neurol. Neurosurg. Psychiat., 2001, 70, 133-134.
5. BAUMANN N., GELOT A., TURPIN J.C. - Manifestations nerveuses des lipidoses. Encyclopédie médico-chirurgicale Elsevier Neurologie, 2002, 17-162-D-10, 37 pages.
6. BAUMANN N., TURPIN J.C., LEFEVRE M., COLSCH B. - Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy : genotype/phenotype relationships ? J. Physiol., (Paris), 2002, sous presse.
7. BERGINER V.M., FOSTER N.L., SADOWSKY M., TOWSEND III J.A., SIEGEL G.J., SALEN G. -Psychiatric disorders in cerebrotendinous xanthomatosis. Am. J Psychiatry, 1988, 145, 354-357.
8. BRAULT J.L., GIESELMANN V., CARPENTIER A., LEFEVRE M., TURPIN J.C., BAUMANN N. - Deux cas familiaux de leucodystrophie métachromatique à expression tardive. Rev. Neurol., (Paris), 1997, 3, 193-198.
9. COGAN D.G., CHU F.C., REINGOLD D., BARRANGER J. - Ocular-motor signs in some metabolic diseases. Arch Ophtalmol, 1981, 99, 1802-1808.
10. COULTER-MACKIE M.B., APPLEGARTH D.A., TOONE J.R., GAGNIER L., ANZARUT A.R., HENDSON G. - Isolated peripheral neuropathy in atypical metachromatic leukodystrophy : a recurrent mutation. Can J Neurol Sci, 2002, 29, 159-63.
11. DUBOIS G., TURPIN J.C., BAUMANN N. - Absence of ASA activity in the healthy father of a metachromatic leukodystrophy (MLD) patient N Engl J Med., 1975, 293, 302.
12. FRESSINAUD C., VALLAT J.M., MASSON M., JAUBERTEAU M.O., BAUMANN N., HUGON J. -Adult-onset metachromatic leukodystrophy presenting as isolated peripheral neuropathy. Neurology, 1992, 42, 1396-8.
13. GARSIDE S., ROSEBUSH P.I., LEVINSON A.J., MAZUREK M.F. - Late-onset adrenoleukodystrophy associated with long-standing psychiatric symptoms. J Clin Psychiatry, 1999, 60, 460-468.
14. GIESELMANN V., ZLOTOGORA J., HARRIS A., WENGER D., MORRIS C.P. - Molecular genetics of metachromatic leukodystrophy. Hum Mutat, 1994, 4, 233-243.
15. GOEBEL H.H., SHARP J.D. - The neuronal ceroid lipofuscinoses. Recent advances. Brain Pathology, 1998, 8, 151-162.
16. GREWAL R.P., BARTON N.W. - Fabry's disease presenting with stroke. Clin Neurol Neurosurg, 1992, 94, 177-179.
17. HYDE T.M, ZIEGLER J.C., WEINBERGER D.R. - Psychiatric disturbances in metachromatic leukodystrophy. Arch Neurol, 1992, 49, 401-406.
18. JULIEN J., LYON-CAEN O., BAUMANN N., BAUMELOU A. - Accidents ischémiques cérébraux et insuffisance rénale chez un homme jeune. Rev Neuro,. (Paris), 1989, 145, 813-818.
19. KOLTER T., SANDHOFF K. - Recent advances in the biochemistry of sphingolipidoses. Brain Pathol, 1998, 8, 79-100.
20. LIDOVE O., JOLY D., BARBEY F., BLETRY O., GRUNFELD J.P. - La maladie de Fabry chez l'adulte : aspects cliniques et progrès thérapeutiques. Rev Med Int, 2001, 22, suppl. 3, 384-392.
21. LOSSOS A., SCHLESINGER I., OKON E., ABRAMSKY O., BARGAL R., VANIER M.T et al. - Adult-onset Niemann-Pick type C disease. Arch Neurol, 1997, 54, 1536-1541.
22. MACQUEEN G.M., ROSEBUSH P.L., MAZUREK M.F. - Neuropsychiatric aspects of the adult variant of Tay-Sachs disease. J Neuropsychiat, 1998, 10, 10-19.
23. MENAGE P., CARREAU V., TOURBAH A., FONTAINE B., PATURNEAU-JOUAS M., LUBETZKI C., et al. - Les adrénoleucodystrophies hété rozygotes symptomatiques de l'adulte : 10 observations. Rev. Neurol., (Paris), 1993, 149, 445-454.
24. MOSER H.W., MOSER A.B., SINGH A.B., O'NEIL B.P. - Adrenoleukodystrophy : survey of 303 cases : biochemistry, diagnosis and therapy. Ann. Neurol., 1984, 16, 628-641.
25. MOSER H.W. - Peroxisomal disorders. Semin. Pediatr. Neurol., 1996, 3, 298-304.
26. NARDOCCI N., BERTAGNOLIO B., RUMI V., ANGELINI L. - Progressive dystonia symptomatic of juvenile GM2 gangliosidosis. Mov Disord, 1992, 7, 64-7.
27. NAVON R., KHOSRAVI R., KORCZYN T., MASSON M., SONNINO S., FARDEAU M. et al. - A new mutation associated with B1 variant of chronic GM2 gangliosidosis. Neurology, 1995, 45, 539-543.
28. NEUDORFER O., GILADI N., ELSTEIN D., ABRAHAMOV A., TUREZKITE T., AGHAI E., et al. - Occurrence of Parkinson's syndrome in type 1 Gaucher disease. QJM, 1996, 89, 691-694.
29. NORDENBO A.M., TONNESEN T. - A variant form of metachromatic leucodystrophy in a patient suffering from another congenital degenerative neurological disease. Acta Neurol Scand, 1985, 71, 31-6.
30. SUZUKI Y., SAKURABA H., OSHIMA A., YOSHIDA K., SHIMMOTO M., TAKANO T. et al. - Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency. Dev Neurosci., 1991, 13, 299-303, Review.
31. TURPIN J.C., JOUAS M., SERENI C., PLUOT M. et BAUMANN N. - Révélation à l'âge adulte d'un cas d'adrénoleucodystrophie familiale. Rev. Neurol., (Paris), 1985, 141, 289-295.
32. TURPIN J.C., DUBOIS G., BRICE A., MASSON M., NADAUD M.C., BOUTRY J.M., et al. - Parkinson symptomatology in a patient with a type 1 (adult) Gaucher's disease. "Lipid storage disorders. Biological and Medical aspects". Salvayre R, Douste-Blazy R, Gatt S eds. New York : Plenum Press, 1988, 103-105.
33. TURPIN J.C., GOAS J.Y., MASSON M., ZAGNOLI F., MOCQUARD Y., BAUMANN N. - Maladie de Niemann-Pick de type C : ophtalmoplegie supranucléaire associée à un défaut de biosynthèse des esters du cholesterol. Rev. Neurol., (Paris), 1991, 147, 28-34.
34. TURPIN J.C., GROSS J.C. - Adrénomyéloneuropathie évoluant comme une maladie psychiatrique. L'Encéphale, 1993, 19, 609-613.
35. VANIER M.T., RODRIGUEZ-LAFRASSE C., ROUSSON R., DUTHEL S., HARZER K., PENTCHEV P. et al. - Type C Niemann-Pick disease : biochemical aspects and phenotypic heterogeneity. Dev Neurosci, 1991, 13, 307-414.
36. VARKONYI J., ROSENBAUM H., BAUMANN N., MACKENZIE J.J., SIMON Z., AHARON J. et al. - Gaucher disease associated with Parkinsonism. Am J Med Genet, 2003, 116A, 348-351.