U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Genetic nervous system disorder

MedGen UID:
1842481
•Concept ID:
C5681307
•
Disease or Syndrome
Synonym: Rare genetic neurological disorder
 
Orphanet: ORPHA71859

Professional guidelines

PubMed

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Diagnosis, evaluation, and treatment of hyponatremia: expert panel recommendations.
Verbalis JG, Goldsmith SR, Greenberg A, Korzelius C, Schrier RW, Sterns RH, Thompson CJ
Am J Med 2013 Oct;126(10 Suppl 1):S1-42. doi: 10.1016/j.amjmed.2013.07.006. PMID: 24074529

Recent clinical studies

Etiology

The neuroimmune axis of Alzheimer's disease.
Jorfi M, Maaser-Hecker A, Tanzi RE
Genome Med 2023 Jan 26;15(1):6. doi: 10.1186/s13073-023-01155-w. PMID: 36703235Free PMC Article
Divergent transcriptional regulation of astrocyte reactivity across disorders.
Burda JE, O'Shea TM, Ao Y, Suresh KB, Wang S, Bernstein AM, Chandra A, Deverasetty S, Kawaguchi R, Kim JH, McCallum S, Rogers A, Wahane S, Sofroniew MV
Nature 2022 Jun;606(7914):557-564. Epub 2022 May 25 doi: 10.1038/s41586-022-04739-5. PMID: 35614216Free PMC Article
Recent advances in epilepsy genomics and genetic testing.
Hebbar M, Mefford HC
F1000Res 2020;9 Epub 2020 Mar 12 doi: 10.12688/f1000research.21366.1. PMID: 32201576Free PMC Article
Outcome and management of newborns with congenital cytomegalovirus infection.
Nicloux M, Peterman L, Parodi M, Magny JF
Arch Pediatr 2020 Apr;27(3):160-165. Epub 2020 Feb 29 doi: 10.1016/j.arcped.2020.01.006. PMID: 32127242
An update on the central nervous system manifestations of neurofibromatosis type 1.
Nix JS, Blakeley J, Rodriguez FJ
Acta Neuropathol 2020 Apr;139(4):625-641. Epub 2019 Apr 8 doi: 10.1007/s00401-019-02002-2. PMID: 30963251Free PMC Article

Diagnosis

Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.
Klein CJ
Continuum (Minneap Minn) 2020 Oct;26(5):1224-1256. doi: 10.1212/CON.0000000000000927. PMID: 33003000
CRISPR-based functional genomics for neurological disease.
Kampmann M
Nat Rev Neurol 2020 Sep;16(9):465-480. Epub 2020 Jul 8 doi: 10.1038/s41582-020-0373-z. PMID: 32641861Free PMC Article
Recent advances in epilepsy genomics and genetic testing.
Hebbar M, Mefford HC
F1000Res 2020;9 Epub 2020 Mar 12 doi: 10.12688/f1000research.21366.1. PMID: 32201576Free PMC Article
Wilson's disease and other neurological copper disorders.
Bandmann O, Weiss KH, Kaler SG
Lancet Neurol 2015 Jan;14(1):103-13. doi: 10.1016/S1474-4422(14)70190-5. PMID: 25496901Free PMC Article
Neurofibromatosis type 2.
Asthagiri AR, Parry DM, Butman JA, Kim HJ, Tsilou ET, Zhuang Z, Lonser RR
Lancet 2009 Jun 6;373(9679):1974-86. Epub 2009 May 22 doi: 10.1016/S0140-6736(09)60259-2. PMID: 19476995Free PMC Article

Therapy

Pharmacogenomics in Stroke and Cardiovascular Disease: State of the Art.
Ross S, Krebs K, Paré G, Milani L
Stroke 2023 Jan;54(1):270-278. Epub 2022 Nov 3 doi: 10.1161/STROKEAHA.122.037717. PMID: 36325912
The growth of siRNA-based therapeutics: Updated clinical studies.
Zhang MM, Bahal R, Rasmussen TP, Manautou JE, Zhong XB
Biochem Pharmacol 2021 Jul;189:114432. Epub 2021 Jan 26 doi: 10.1016/j.bcp.2021.114432. PMID: 33513339Free PMC Article
The gut microbiome and epilepsy.
Dahlin M, Prast-Nielsen S
EBioMedicine 2019 Jun;44:741-746. Epub 2019 May 31 doi: 10.1016/j.ebiom.2019.05.024. PMID: 31160269Free PMC Article
Vitamin C, Aging and Alzheimer's Disease.
Monacelli F, Acquarone E, Giannotti C, Borghi R, Nencioni A
Nutrients 2017 Jun 27;9(7) doi: 10.3390/nu9070670. PMID: 28654021Free PMC Article
Intravenous immunoglobulin in neurology--mode of action and clinical efficacy.
Lünemann JD, Nimmerjahn F, Dalakas MC
Nat Rev Neurol 2015 Feb;11(2):80-9. Epub 2015 Jan 6 doi: 10.1038/nrneurol.2014.253. PMID: 25561275

Prognosis

Divergent transcriptional regulation of astrocyte reactivity across disorders.
Burda JE, O'Shea TM, Ao Y, Suresh KB, Wang S, Bernstein AM, Chandra A, Deverasetty S, Kawaguchi R, Kim JH, McCallum S, Rogers A, Wahane S, Sofroniew MV
Nature 2022 Jun;606(7914):557-564. Epub 2022 May 25 doi: 10.1038/s41586-022-04739-5. PMID: 35614216Free PMC Article
Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.
Klein CJ
Continuum (Minneap Minn) 2020 Oct;26(5):1224-1256. doi: 10.1212/CON.0000000000000927. PMID: 33003000
Recent advances in epilepsy genomics and genetic testing.
Hebbar M, Mefford HC
F1000Res 2020;9 Epub 2020 Mar 12 doi: 10.12688/f1000research.21366.1. PMID: 32201576Free PMC Article
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E
Neurologia (Engl Ed) 2020 Apr;35(3):185-206. Epub 2019 Apr 16 doi: 10.1016/j.nrl.2019.01.001. PMID: 31003788
Neurofibromatosis type 2.
Asthagiri AR, Parry DM, Butman JA, Kim HJ, Tsilou ET, Zhuang Z, Lonser RR
Lancet 2009 Jun 6;373(9679):1974-86. Epub 2009 May 22 doi: 10.1016/S0140-6736(09)60259-2. PMID: 19476995Free PMC Article

Clinical prediction guides

Divergent transcriptional regulation of astrocyte reactivity across disorders.
Burda JE, O'Shea TM, Ao Y, Suresh KB, Wang S, Bernstein AM, Chandra A, Deverasetty S, Kawaguchi R, Kim JH, McCallum S, Rogers A, Wahane S, Sofroniew MV
Nature 2022 Jun;606(7914):557-564. Epub 2022 May 25 doi: 10.1038/s41586-022-04739-5. PMID: 35614216Free PMC Article
Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS).
Dupré M, Hermann R, Froment Tilikete C
Cerebellum 2021 Oct;20(5):687-700. Epub 2020 Oct 4 doi: 10.1007/s12311-020-01192-w. PMID: 33011895Free PMC Article
Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.
Klein CJ
Continuum (Minneap Minn) 2020 Oct;26(5):1224-1256. doi: 10.1212/CON.0000000000000927. PMID: 33003000
Outcome and management of newborns with congenital cytomegalovirus infection.
Nicloux M, Peterman L, Parodi M, Magny JF
Arch Pediatr 2020 Apr;27(3):160-165. Epub 2020 Feb 29 doi: 10.1016/j.arcped.2020.01.006. PMID: 32127242
Incidence, prevalence, and predictors of chemotherapy-induced peripheral neuropathy: A systematic review and meta-analysis.
Seretny M, Currie GL, Sena ES, Ramnarine S, Grant R, MacLeod MR, Colvin LA, Fallon M
Pain 2014 Dec;155(12):2461-2470. Epub 2014 Sep 23 doi: 10.1016/j.pain.2014.09.020. PMID: 25261162

Recent systematic reviews

Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.
Salari N, Fatahi B, Valipour E, Kazeminia M, Fatahian R, Kiaei A, Shohaimi S, Mohammadi M
J Orthop Surg Res 2022 Feb 15;17(1):96. doi: 10.1186/s13018-022-02996-8. PMID: 35168641Free PMC Article
Migraine and sleep disorders: a systematic review.
Tiseo C, Vacca A, Felbush A, Filimonova T, Gai A, Glazyrina T, Hubalek IA, Marchenko Y, Overeem LH, Piroso S, Tkachev A, Martelletti P, Sacco S; European Headache Federation School of Advanced Studies (EHF-SAS)
J Headache Pain 2020 Oct 27;21(1):126. doi: 10.1186/s10194-020-01192-5. PMID: 33109076Free PMC Article
A systematic review of variables associated with sleep paralysis.
Denis D, French CC, Gregory AM
Sleep Med Rev 2018 Apr;38:141-157. Epub 2017 Jun 8 doi: 10.1016/j.smrv.2017.05.005. PMID: 28735779
Incidence, prevalence, and predictors of chemotherapy-induced peripheral neuropathy: A systematic review and meta-analysis.
Seretny M, Currie GL, Sena ES, Ramnarine S, Grant R, MacLeod MR, Colvin LA, Fallon M
Pain 2014 Dec;155(12):2461-2470. Epub 2014 Sep 23 doi: 10.1016/j.pain.2014.09.020. PMID: 25261162
Parkinson disease subtypes.
Thenganatt MA, Jankovic J
JAMA Neurol 2014 Apr;71(4):499-504. doi: 10.1001/jamaneurol.2013.6233. PMID: 24514863

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...