Journal of Neurology and Neuroscience

  • ISSN: 2171-6625
  • Journal h-index: 18
  • Journal CiteScore: 4.35
  • Journal Impact Factor: 3.75
  • Average acceptance to publication time (5-7 days)
  • Average article processing time (30-45 days) Less than 5 volumes 30 days
    8 - 9 volumes 40 days
    10 and more volumes 45 days
Awards Nomination 20+ Million Readerbase
Indexed In
  • Open J Gate
  • Genamics JournalSeek
  • The Global Impact Factor (GIF)
  • China National Knowledge Infrastructure (CNKI)
  • Directory of Research Journal Indexing (DRJI)
  • OCLC- WorldCat
  • Proquest Summons
  • Scientific Journal Impact Factor (SJIF)
  • Euro Pub
  • Google Scholar
  • Secret Search Engine Labs
Share This Page

Image Article - (2022) Volume 13, Issue 11

Psychomotor dysfunction in rasopathies

Ramachandran Muthiah*
Department of Cardiology, Pondicherry University, Puducherry, India
*Correspondence: Dr. Ramachandran Muthiah, Department of Cardiology, Pondicherry University, Puducherry, India, Tel: 7598755201, Email:

Received: 04-May-2022, Manuscript No. IPJNN-22-12770; Editor assigned: 06-May-2022, Pre QC No. P-12770; Reviewed: 01-Nov-2022, QC No. Q-12770; Revised: 07-Nov-2022, Manuscript No. R-12770; Published: 15-Nov-2022

About the Study

Rasopathies are developmental disorders characterized by postnatal growth retardation with delayed skeletal maturation, psychomotor dysfunction, cutis laxa, and acanthosis Nigerians and resulting from germ line mutations of the proto-oncogene HRAS. Many of these mutations affect SHP2, SOS1, RAS, RAF and MEK proteins. Dr. White says a group of related disorders including Costello syndrome, Noonan Syndrome (NS), Cardiofaciocutaneous (CFC) syndrome, and Neurofibromatosis 1 (NF1), caused by abnormal functioning of Ras‐mitogen‐activated protein kinase (RAS/ MapK) signalling pathway that controls cell proliferation, differentiation and survival. In this pathway, Ras, a GTPase, transmits extracellular signaling from receptor tyrosine kinases to two serine/threonine kinases (Raf and MEK) and to the activation of MAPKs. Psychosomatic dysfunction is a common feature of rasopathies. Isoprenylation involves the enzyme Farnesyl Transferase (FTase) transferring a farnesyl group from Farnesyl Pyrophosphate (FPP) to the pre-Ras protein. Pathway modulators or small molecule inhibitors such as statins causes significant improvement in verbal and nonverbal memory, visual attention and efficacy by inhibiting the posttranscriptional lipid modification of RAS. RAF-1 inhibition by C-type Natriuretic Peptide (CNP) improved bone growth in preclinical animal models and it is a potential targeted therapeutic drug to improve the stature of patients. Gene correction of the germ line mutations to restore normal protein functions is anticipated as a new therapeutic option. Oxidative stress and free radicals determine non- neoplastic clinical features such as elastin anomalies, alteration of skin and appendages, developmental retardation and cardiac defects. PAR therapy (potassium ascorbate with ribose). Causes a reduction in oxidative stress biomarkers in parallel with improvement of clinical features [1-5]. It combines the antioxidant action of vitamin C with stabilizing intracellular effects of potassium and causes improvement of skin and appendage lesions, better evolution of psychomotor development, no Progression of heart hypertrophy, nor tumor development. It is low cost, no side effects, orally administered and useful for all genetic syndromes (Fig. 1).


Fig. 1. 9 years old boy with radiant smile.


  1. Muthiah R. Isolated acute rheumatic pancreatitis—A case report. Clin Med Case Rep. 2021 Feb 20;10(2):52-77.
  2. Google Scholar, Crossref, Indexed at

  3. Muthiah R. infective endocarditis in tetralogy of fallot complicating brain abscess—A case report. Clin Med Case Rep. 2019 May 13;8(5):105-26.
  4. Google Scholar, Crossref, Indexed at

  5. Muthiah R. Native aortic valve endocarditis—A case report. Clin Med Case Rep. 2018 Sep 13;7(09):483.
  6. Google Scholar, Crossref, Indexed at

  7. Muthiah R. tropical coronary artery disease and arrhythmogenic potentials—The changing pattern towards endomyocardial fibrosis—An analysis. Clin Med Case Rep. 2018 Jun 14;7(6):397-429.
  8. Google Scholar, Crossref, Indexed at

  9. Muthiah R. Isolated patent ductus arteriosus in an elderly female, Aged 65 Years—A Case report. Clin Med Case Rep. 2018 May 28;7(05):352.
  10. Google Scholar, Crossref, Indexed at