Page last updated: 2024-10-17

creatine and Neurofibromatosis 1

creatine has been researched along with Neurofibromatosis 1 in 4 studies

Neurofibromatosis 1: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

Research Excerpts

ExcerptRelevanceReference
"(a) Hamartomas showed higher N-acetyl aspartate/creatine, creatine/choline, and N-acetyl aspartate/choline ratios than gliomas."3.69Proton MR spectroscopy in patients with neurofibromatosis type 1: evaluation of hamartomas and clinical correlation. ( Castillo, M; Green, C; Greenwood, R; Kwock, L; Schiro, S; Smith, K; Wilson, D, 1995)

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (75.00)18.2507
2000's0 (0.00)29.6817
2010's1 (25.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Rodrigues, AC1
Ferraz-Filho, JR1
Torres, US1
da Rocha, AJ1
Muniz, MP1
Souza, AS1
Goloni-Bertollo, EM1
Pavarino, ÉC1
Castillo, M1
Green, C1
Kwock, L1
Smith, K1
Wilson, D1
Schiro, S1
Greenwood, R1
Broniscer, A1
Gajjar, A1
Bhargava, R1
Langston, JW1
Heideman, R1
Jones, D1
Kun, LE1
Taylor, J1
Gonen, O1
Wang, ZJ1
Viswanathan, AK1
Molloy, PT1
Zimmerman, RA1

Reviews

1 review available for creatine and Neurofibromatosis 1

ArticleYear
Brain stem involvement in children with neurofibromatosis type 1: role of magnetic resonance imaging and spectroscopy in the distinction from diffuse pontine glioma.
    Neurosurgery, 1997, Volume: 40, Issue:2

    Topics: Adolescent; Aspartic Acid; Brain Neoplasms; Brain Stem; Child; Child, Preschool; Choline; Creatine;

1997

Other Studies

3 other studies available for creatine and Neurofibromatosis 1

ArticleYear
Is magnetic resonance spectroscopy capable of detecting metabolic abnormalities in neurofibromatosis type 1 that are not revealed in brain parenchyma of normal appearance?
    Pediatric neurology, 2015, Volume: 52, Issue:3

    Topics: Adolescent; Aspartic Acid; Brain; Case-Control Studies; Child; Child, Preschool; Choline; Creatine;

2015
Proton MR spectroscopy in patients with neurofibromatosis type 1: evaluation of hamartomas and clinical correlation.
    AJNR. American journal of neuroradiology, 1995, Volume: 16, Issue:1

    Topics: Adolescent; Adult; Aspartic Acid; Astrocytoma; Brain; Brain Diseases; Brain Neoplasms; Cerebellar Di

1995
Three-dimensional multivoxel proton MR spectroscopy of the brain in children with neurofibromatosis type 1.
    AJNR. American journal of neuroradiology, 1999, Volume: 20, Issue:7

    Topics: Aspartic Acid; Brain; Brain Chemistry; Brain Neoplasms; Child; Child, Preschool; Choline; Creatine;

1999