Leukodystrophies underlying cryptic spastic paraparesis: Frequency and phenotype in 76 patients

European Journal of Neurology

Volumn 21, Issue 7, 2014, Pages 983-988

  Muller vom Hagen J ^a,b   Karle, K N ^a,b   Schule R ^a,b   Krageloh Mann I ^b,c   Schols L ^a,b  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Frequency; Leukodystrophy; Neurometabolic disease; Phenotype; Spasticity

Indexed keywords

LYSOSOME ENZYME; VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; ADULT; AGED; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; COGNITIVE DEFECT; COMORBIDITY; CONTROLLED STUDY; DYSTONIA; EPILEPSY; FEMALE; GENETIC SCREENING; GLOBOID CELL LEUKODYSTROPHY; GM1 GANGLIOSIDOSIS; HUMAN; LEUKODYSTROPHY; MAJOR CLINICAL STUDY; MALE; MENTAL DISEASE; METACHROMATIC LEUKODYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SANDHOFF DISEASE; SPASTIC PARAPLEGIA; SPASTICITY; TAY SACHS DISEASE; WHITE MATTER LESION; BLOOD; CASE REPORT; COMPLICATION; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; LEUKODYSTROPHY, GLOBOID CELL; LEUKODYSTROPHY, METACHROMATIC; MIDDLE AGED; ONSET AGE; PARAPARESIS, SPASTIC;

ADRENOLEUKODYSTROPHY; ADULT; AGE OF ONSET; AGED; FEMALE; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; LEUKODYSTROPHY, GLOBOID CELL; LEUKODYSTROPHY, METACHROMATIC; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PARAPARESIS, SPASTIC; PHENOTYPE;

EID: 84902280638     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/ene.12423     Document Type: Article

References (20)

1. Schule R, Schlipf N, Synofzik M, et al. Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 2009; 80: 1402-1404.
2. Fink JK. Hereditary spastic paraplegia overview. 15 Aug 2000. In: Pagon RA, Adam MP, Bird TD, et al., eds. GeneReviews™ [Internet]. Seattle, WA: University of Washington, 2000: 1993-2014.
3. Bajaj NPS, Waldman A, Orrell R, Wood NW, Bhatia KP. Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging. J Neurol Neurosurg Psychiatry. 2002; 72: 635-638.
4. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249-254.
5. Wenger DA, Coppola S, Liu SL, Wenger DA, Coppola S, Liu S-L. Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy. Genet Med 2002; 4: 412-419.
6. Bonkowsky JL, Nelson C, Kingston JL, Filloux FM, Mundorff MB, Srivastava R. The burden of inherited leukodystrophies in children. Neurology 2010; 75: 718-725.
7. Aicardi J. The inherited leukodystrophies: a clinical overview. J Inherit Metab Dis 1993; 16: 733-743.
8. Costello DJ, Eichler AF, Eichler FS. Leukodystrophies classification, diagnosis, and treatment. Neurologist 2009; 15: 319-328.
9. Kohler W, Kohler W. Leukodystrophies with late disease onset: an update. Curr Opin Neurol 2010; 23: 234-241.
10. Peters C, Steward CG, Inborn NIWP. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant 2003; 31: 229-239.
11. Patterson MC, Vecchio D, Prady H, et al. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol 2007; 6: 765-772.
12. Stromillo ML, Malandrini A, Dotti MT, et al. Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI. J Neurol 2011; 258: 2240-2247.
13. Schmitz-Huebsch T, Coudert M, Giunti P, et al. Self-rated health status in spinocerebellar ataxia - results from a European multicenter study. Mov Disord 2010; 25: 587-595.
14. Riecker A, Nagele T, Henneke M, et al. Late onset vanishing white matter disease. J Neurol 2007; 254: 544-545.
15. Deon M, Sitta A, Barschak AG, et al. Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy. J Neurol Sci 2008; 266: 79-83.
16. Grodd W, Krägeloh-Mann I. Stoffwechselstörungen im Kindesalter. In: Jansen O, Stephani U Hrsg eds. Fehlbildungen und frühkindliche Schädigungen des ZNS. Referenz-Reihe Neurologie. Stuttgart: Thieme, 2007: 114-181.
17. Schule R, Schols L. Genetics of hereditary spastic paraplegias. Semin Neurol 2011; 31: 484-493.
18. Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy. Nat Clin Pract Neurol 2007; 3: 140-151.
19. Autti T, Joensuu R, Aberg L, Autti T, Joensuu R, Aberg L. Decreased T2 signal in the thalami may be a sign of lysosomal storage disease. Neuroradiology 2007; 49: 571-578.
20. Hund E, Grau A, Fogel W, et al. Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings. J Neurol Sci 1997; 145: 25-31.