Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data

Journal of Inherited Metabolic Disease

Volumn 34, Issue 5, 2011, Pages 1075-1081

  Cialone, Jennifer ^a   Augustine, Erika F ^a   Newhouse, Nicole ^a   Adams, Heather ^a   Vierhile, Amy ^a   Marshall, Frederick J ^a   De Blieck, Elisabeth A ^a   Kwon, Jennifer ^a   Rothberg, Paul G ^a   Mink, Jonathan W ^a  

^a UNIVERSITY OF ROCHESTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FLUPIRTINE;

ADL DISABILITY; ADOLESCENT; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DRUG EFFECT; DRUG EFFICACY; FEMALE; GENOTYPE; HUMAN; MALE; NEURONAL CEROID LIPOFUSCINOSIS; ONSET AGE; PARENT; QUANTITATIVE ANALYSIS; QUESTIONNAIRE; RATING SCALE; SPEECH DISORDER; TREATMENT DURATION; UNIFIED BATTEN DISEASE RATING SCALE; WALKING DIFFICULTY;

ADOLESCENT; ADULT; ALGORITHMS; AMINOPYRIDINES; ANALGESICS; CHILD; CHILD, PRESCHOOL; FEMALE; FOLLOW-UP STUDIES; HEALTH SURVEYS; HUMANS; INFANT; MALE; NEURONAL CEROID-LIPOFUSCINOSES; PARENTS; REPRODUCIBILITY OF RESULTS; RESEARCH DESIGN; RESEARCH REPORT; TREATMENT OUTCOME; YOUNG ADULT;

EID: 82955237514     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9346-0     Document Type: Article

References (11)

1. Boustany R-M (1996). Batten disease or neuronal ceroid lipofuscinosis. In: Moser HW (ed) Handbook of clinical neurology, vol. 22. Elsevier, Amsterdam, pp 671-700
2. Dhar S, Bitting RL, Rylova SN et al (2002) Flupirtine blocks apoptosis in Batten patient lymphoblasts and in human postmitotic cln3-and cln2-deficient neurons. Ann Neurol 51: 448-466 (Pubitemid 34260775)
3. Jalanko A, Braulke T (2009) Neuronal ceroid lipofuscinoses. Biochim Biophys Acta 1793: 697-709
4. Kim K.H., Sleat DE, Bernard O, Lobel P (2009) Genetic modulation of apoptotic pathways fails to alter disease course in tripeptidyl-peptidase 1 deficient mice. Neurosci Lett 453: 27-30
5. Kohlschutter A, Schulz A (2009) Towards understanding the neuronal ceroid lipofuscinoses. Brain Dev 31: 499-502
6. Kovacs AD, Saje A, Wong A et al (2011) Temporary inhibition of ampa receptors induces a prolonged improvement of motor performance in a mouse model of juvenile Batten disease. Neuropharmacology 60: 405-409
7. Marshall FJ, de Blieck EA, Mink JW et al (2005) A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology 65: 275-279 (Pubitemid 41022374)
8. Munroe PB, Mitchison HM, O'Rawe AM et al (1997) Spectrum of mutations in the Batten disease gene, cln3. Am J Hum Genet 61: 310-316 (Pubitemid 27382306)
9. Phillips SN, Benedict JW, Weimer JM, Pearce DA (2005) Cln3, the protein associated with Batten disease: structure, function and localization. J Neurosci Res 79: 573-583 (Pubitemid 40476436)
10. Rothberg PG, Ramirez-Montealegre D, Frazier SD, Pearce DA (2004) Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in cln3 that causes Batten disease. J Mol Diagn 6: 260-263 (Pubitemid 39136655)
11. Santavuori P, Lauronen L, Kirveskari E, Aberg L, Sainio K, Autti T (2000) Neuronal ceroid lipofuscinoses in childhood. Neurol Sci 21: S35-S41