Neurological and brain MRS findings in patients with Gaucher disease type 1

Molecular Genetics and Metabolism

Volumn 91, Issue 4, 2007, Pages 390-395

  Mercimek Mahmutoglu, Saadet ^a,b   Gruber, Stephan ^a   Rolfs, Arndt ^c   Stadlbauer, Andreas ^d   Woeber, Christian ^a   Kurnik, Peter ^e   Voigtlaender, Till ^f   Moser, Ewald ^a   Stoeckler Ipsiroglu, Sylvia ^a,b  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b BC CHILDREN S HOSPITAL   (Canada)

^c UNIVERSITY OF ROSTOCK   (Germany)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^e Landeskrankenhaus ^*  (Austria)

^f MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Glucocerebrosidase deficiency; In vivo magnetic resonance spectroscopy; Phosphatidylcholine

Indexed keywords

CHOLINE; GLYCOSPHINGOLIPID; IMIGLUCERASE;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARPAL TUNNEL SYNDROME; CENTRAL NERVOUS SYSTEM; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG DOSE REDUCTION; FEMALE; GAUCHER DISEASE; GENE MUTATION; HETEROZYGOTE; HUMAN; LYSOSOME STORAGE DISEASE; MALE; MONOCLONAL IMMUNOGLOBULINEMIA; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PERIPHERAL NERVOUS SYSTEM; PRIORITY JOURNAL;

ADOLESCENT; ADULT; BRAIN; BRAIN MAPPING; CHOLINE; ELECTROPHYSIOLOGY; FEMALE; GAUCHER DISEASE; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MIDDLE AGED; PERIPHERAL NERVOUS SYSTEM;

EID: 34447288053     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.03.009     Document Type: Article

References (38)

1. Beutler E., and Grabowski G.A. Gaucher disease. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill, New York 3635-3668
2. Wenstrup R.J., Roca-Espiau M., Weinreb N.J., and Bembi B. Skeletal aspects of Gaucher disease: a review. Br. J. Radiol. 75 Suppl. 1 (2002) A2-A12
3. Shoenfeld Y., Gallant L.A., Shaklai M., Livni E., Djaldetti M., and Pinkhas J. Gaucher's disease: a disease with chronic stimulation of the immune system. Arch. Pathol. Lab. Med. 106 (1982) 388-391
4. Marti G.E., Ryan E.T., Papadopoulos N.M., Filling-Katz M., Barton N., Fleischer T.A., Rick M., and Gralnick H.R. Polyclonal B-cell lymphocytosis and hypergammaglobulinemia in patients with Gaucher disease. Am. J. Hematol. 29 (1988) 189-194
5. Blom S., and Erikson A. Gaucher disease--Norrbottnian type. Neurodevelopmental, neurological, and neurophysiological aspects. Eur. J. Pediatr. 140 (1983) 316-322
6. Montfort M., Chabas A., Vilageliu L., and Grinberg D. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. Hum. Mutat. 23 (2004) 567-575
7. Koprivica V., Stone D.L., Park J.K., Callahan M., Frisch A., Cohen I.J., Tayebi N., and Sidransky E. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am. J. Hum. Genet. 66 (2000) 1777-1786
8. Zimran A., Sorge J., Gross E., Kubitz M., West C., and Beutler E. Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 2 (1989) 349-352
9. Zhao H., Bailey L.A., Elsas II L.J., Grinzaid K.A., and Grabowski G.A. Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes. Am. J. Med. Genet. A 116 (2003) 52-56
10. Sibille A., Eng C.M., Kim S.J., Pastores G., and Grabowski G.A. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am. J. Hum. Genet. 52 (1993) 1094-1101
11. Mistry P., and Germain D.P. Phenotype variations in Gaucher disease. Rev. Med. Interne. 27 suppl 1 (2006) S3-S10
12. Pastores G.M., Barnett N.L., Bathan P., and Kolodny E.H. A neurological symptom survey of patients with type I Gaucher disease. J. Inherit. Metab. Dis. 26 (2003) 641-645
13. Lee R.E., Robinson D.B., and Glew R.H. Gaucher's disease. I. Modern enzymatic and anatomic methods of diagnosis. Arch. Pathol. Lab. Med. 105 (1981) 102-104
14. Finckh U., Seeman P., von Widdern O.C., and Rolfs A. Simple PCR amplification of the entire glucocerebrosidase gene (GBA) coding region for diagnostic sequence analysis. DNA Seq. 8 (1998) 349-356
15. Zimran A., Kay A., Gelbart T., Garver P., Thurston D., Saven A., and Beutler E. Gaucher disease, Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine (Baltimore) 71 (1992) 337-353
16. Ludin H.P. Praktische Elektromyographie (1993), Enke, Stuttgart
17. Dal-Bianco P., Mamoli B., and Dorda W. Somatosensory evoked potentials: normal values and methodological problems in various recording techniques. Wien. Klin. Wochenschr. 95 (1983) 470-474
18. Gruber S., Mlynarik V., and Moser E. High-resolution 3D proton spectroscopic imaging of the human brain at 3 T: SNR issues and application for anatomy-matched voxel sizes. Magn. Reson. Med. 49 (2003) 299-306
19. Gruetter R. Automatic, localized in vivo adjustment of all first- and second-order shim coils. Magn. Reson. Med. 29 (1993) 804-811
20. Provencher S.W. Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn. Reson. Med. 30 (1993) 672-679
21. Gruber S., Frey R., Mlynarik V., Stadlbauer A., Heiden A., Kasper S., Kemp G.J., and Moser E. Quantification of metabolic differences in the frontal brain of depressive patients and controls obtained by 1H-MRS at 3 Tesla. Invest. Radiol. 38 (2003) 403-408
22. Felderhoff-Mueser U., Uhl J., Penzel R., Van Landeghem F., Vogel M., Obladen M., and Kopitz J. Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence. Am. J. Med. Genet. A 128 (2004) 138-143
23. Wan L., Hsu C.M., Tsai C.H., Lee C.C., Hwu W.L., and Tsai F.J. Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations. Blood Cells Mol. Dis. 36 (2006) 422-425
24. Wong K., Sidransky E., Verma A., Mixon T., Sandberg G.D., Wakefield L.K., Morrison A., Lwin A., Colegial C., Allman J.M., and Schiffmann R. Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol. Genet. Metab. 82 (2004) 192-207
25. Pelled D., Shogomori H., and Futerman A.H. The increased sensitivity of neurons with elevated glucocerebroside to neurotoxic agents can be reversed by imiglucerase. J. Inherit. Metab. Dis. 23 (2000) 175-184
26. Bembi B., Zambito-Marsala S., Sidransky E., Ciana G., Carrozzi M., Zorzon M., Martini C., Gioulis M., Pittis M.G., and Capus L. Gaucher's disease with Parkinson's disease: clinical and pathological aspects. Neurology 61 (2003) 99-101
27. Tayebi N., Callahan M., Madike V., Stubblefield B.K., Orvisky E., Krasnewich D., Fillano J.J., and Sidransky E. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol. Genet. Metab. 73 (2001) 313-321
28. Machaczka M., Rucinska M., Skotnicki A.B., and Jurczak W. Parkinson's syndrome preceding clinical manifestation of Gaucher's disease. Am. J. Hematol. 61 (1999) 216-217
29. Clark L.N., Nicolai A., Afridi S., Clark L.N., Nicolai A., Afridi S., Harris J., Mejia-Santana H., Strug L., Cote L.J., Louis E.D., Andrews H., Waters C., Ford B., Frucht S., Fahn S., Mayeux R., Ottman R., and Marder K. Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity. Mov. Disord. 20 (2005) 100-103
30. Brooks J.C., Roberts N., Kemp G.J., Gosney M.A., Lye M., and Whitehouse G.H. A proton magnetic resonance spectroscopy study of age-related changes in frontal lobe metabolite concentrations. Cereb. Cortex 11 (2001) 598-605
31. Sijens P.E., den Heijer T., Origgi D., Vermeer S.E., Breteler M.M., Hofman A., and Oudkerk M. Brain changes with aging: MR spectroscopy at supraventricular plane shows differences between women and men. Radiology 226 (2003) 889-896
32. Pfefferbaum A., Adalsteinsson E., Spielman D., Sullivan E.V., and Lim K.O. In vivo spectroscopic quantification of the N-acetyl moiety, creatine, and choline from large volumes of brain gray and white matter: effects of normal aging. Magn. Reson. Med. 41 (1999) 276-284
33. McAlarney T., Pastores G.M., Hays A.P., and Latov N. Antisulfatide antibody and neuropathy in a patient with Gaucher's disease. Neurology 45 (1995) 1622-1623
34. Benjamin D., Bouer D., Pick A.I., Zer M., Dintsman M., and Pinkhas J. Peripheral cryoglobulinemic neuropathy in a patient with Gaucher's disease. Acta. Haematol. 60 (1978) 117-121
35. Neil J.F., Glew R.H., and Peters S.P. Familial psychosis and diverse neurologic abnormalities in adult-onset Gaucher's disease. Arch. Neurol. 36 (1979) 95-99
36. King J.O. Progressive myoclonic epilepsy due to Gaucher's disease in an adult. J. Neurol. Neurosurg. Psychiatry 38 (1975) 849-854
37. McKeran R.O., Bradbury P., Taylor D., and Stern G. Neurological involvement in type 1 (adult) Gaucher's disease. J. Neurol. Neurosurg. Psychiatry 48 (1985) 172-175
38. Winkelman M.D., Banker B.Q., Victor M., and Moser H.W. Non-infantile neuronopathic Gaucher's disease: a clinicopathologic study. Neurology 33 (1983) 994-1008