Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Juvenile or adult CACH syndrome

MedGen UID:: 1826173
•Concept ID:: C5680649
•: Disease or Syndrome

Synonym:	juvenile or adult CACH syndrome

Monarch Initiative:	MONDO:0015521
Orphanet:	ORPHA157719

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Abnormality of the nervous system
- Abnormal nervous system morphology
  - Abnormal myelination
    - Abnormal CNS myelination
      - Leukodystrophy
        Vanishing white matter disease
        Juvenile or adult CACH syndrome

Professional guidelines

PubMed

Dermatomyositis: Diagnosis and treatment.

Waldman R, DeWane ME, Lu J
J Am Acad Dermatol 2020 Feb;82(2):283-296. Epub 2019 Jul 4 doi: 10.1016/j.jaad.2019.05.105. PMID: 31279813

Exercise management in type 1 diabetes: a consensus statement.

Riddell MC, Gallen IW, Smart CE, Taplin CE, Adolfsson P, Lumb AN, Kowalski A, Rabasa-Lhoret R, McCrimmon RJ, Hume C, Annan F, Fournier PA, Graham C, Bode B, Galassetti P, Jones TW, Millán IS, Heise T, Peters AL, Petz A, Laffel LM
Lancet Diabetes Endocrinol 2017 May;5(5):377-390. Epub 2017 Jan 24 doi: 10.1016/S2213-8587(17)30014-1. PMID: 28126459

Hashimoto thyroiditis: clinical and diagnostic criteria.

Caturegli P, De Remigis A, Rose NR
Autoimmun Rev 2014 Apr-May;13(4-5):391-7. Epub 2014 Jan 13 doi: 10.1016/j.autrev.2014.01.007. PMID: 24434360

See all (2816)

Recent clinical studies

Etiology

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048

Diagnosis, prognosis, and treatment of leukodystrophies.

van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818

Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.

Lynch DS, Wade C, Paiva ARB, John N, Kinsella JA, Merwick Á, Ahmed RM, Warren JD, Mummery CJ, Schott JM, Fox NC, Houlden H, Adams ME, Davagnanam I, Murphy E, Chataway J
J Neurol Neurosurg Psychiatry 2019 May;90(5):543-554. Epub 2018 Nov 22 doi: 10.1136/jnnp-2018-319481. PMID: 30467211 Free PMC Article

Adulthood leukodystrophies.

Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065

Leukodystrophies.

Barañano KW
Semin Neurol 2016 Aug;36(4):362-6. Epub 2016 Sep 19 doi: 10.1055/s-0036-1585455. PMID: 27643905

See all (23371)

Diagnosis

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.

Wu C, Wang M, Wang X, Li W, Li S, Chen B, Niu S, Tai H, Pan H, Zhang Z
Brain 2023 Jun 1;146(6):2364-2376. doi: 10.1093/brain/awac426. PMID: 36380532 Free PMC Article

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Diagnosis, prognosis, and treatment of leukodystrophies.

van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818

Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.

Adulthood leukodystrophies.

Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065

See all (21396)

Therapy

Cannabinoids for the treatment of dementia.

Bosnjak Kuharic D, Markovic D, Brkovic T, Jeric Kegalj M, Rubic Z, Vuica Vukasovic A, Jeroncic A, Puljak L
Cochrane Database Syst Rev 2021 Sep 17;9(9):CD012820. doi: 10.1002/14651858.CD012820.pub2. PMID: 34532852 Free PMC Article

Cognitive Impairment and Dementia After Stroke: Design and Rationale for the DISCOVERY Study.

Rost NS, Meschia JF, Gottesman R, Wruck L, Helmer K, Greenberg SM; DISCOVERY Investigators
Stroke 2021 Aug;52(8):e499-e516. Epub 2021 May 27 doi: 10.1161/STROKEAHA.120.031611. PMID: 34039035 Free PMC Article

Memantine for dementia.

McShane R, Westby MJ, Roberts E, Minakaran N, Schneider L, Farrimond LE, Maayan N, Ware J, Debarros J
Cochrane Database Syst Rev 2019 Mar 20;3(3):CD003154. doi: 10.1002/14651858.CD003154.pub6. PMID: 30891742 Free PMC Article

Clinical Significance of Magnetic Resonance Imaging Markers of Vascular Brain Injury: A Systematic Review and Meta-analysis.

Debette S, Schilling S, Duperron MG, Larsson SC, Markus HS
JAMA Neurol 2019 Jan 1;76(1):81-94. doi: 10.1001/jamaneurol.2018.3122. PMID: 30422209 Free PMC Article

Mini-Mental State Examination (MMSE) for the detection of dementia in clinically unevaluated people aged 65 and over in community and primary care populations.

Creavin ST, Wisniewski S, Noel-Storr AH, Trevelyan CM, Hampton T, Rayment D, Thom VM, Nash KJ, Elhamoui H, Milligan R, Patel AS, Tsivos DV, Wing T, Phillips E, Kellman SM, Shackleton HL, Singleton GF, Neale BE, Watton ME, Cullum S
Cochrane Database Syst Rev 2016 Jan 13;2016(1):CD011145. doi: 10.1002/14651858.CD011145.pub2. PMID: 26760674 Free PMC Article

See all (12215)

Prognosis

Prognosis in substance abuse-related acute toxic leukoencephalopathy: A scoping review.

Macchi ZA, Carlisle TC, Filley CM
J Neurol Sci 2022 Nov 15;442:120420. Epub 2022 Sep 13 doi: 10.1016/j.jns.2022.120420. PMID: 36156344 Free PMC Article

Diagnosis, prognosis, and treatment of leukodystrophies.

van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818

Maternal Stroke: an Update.

Zambrano MD, Miller EC
Curr Atheroscler Rep 2019 Jun 22;21(9):33. doi: 10.1007/s11883-019-0798-2. PMID: 31230137 Free PMC Article

Adulthood leukodystrophies.

Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065

Posterior reversible encephalopathy syndrome.

Lamy C, Oppenheim C, Mas JL
Handb Clin Neurol 2014;121:1687-701. doi: 10.1016/B978-0-7020-4088-7.00109-7. PMID: 24365441

See all (12974)

Clinical prediction guides

Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.

Liu M, Wang Y, Shi C, Yuan Y, Li L, Zhang X, Xu Y, Yang J
Ann Clin Transl Neurol 2023 Jul;10(7):1119-1135. Epub 2023 May 26 doi: 10.1002/acn3.51794. PMID: 37237429 Free PMC Article

Ong CS, Gao JL, Tan YJ
J Neurol Sci 2022 Nov 15;442:120444. Epub 2022 Sep 30 doi: 10.1016/j.jns.2022.120444. PMID: 36208584

Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.

Ren Y, Yu X, Chen B, Tang H, Niu S, Wang X, Pan H, Zhang Z
Neurol Sci 2022 Aug;43(8):4961-4977. Epub 2022 Apr 7 doi: 10.1007/s10072-022-06011-0. PMID: 35389136

Clinical and genetic characterization of adult-onset leukoencephalopathy caused by CSF1R mutations.

Tsai PC, Fuh JL, Yang CC, Chang A, Lien LM, Wang PN, Lai KL, Tsai YS, Lee YC, Liao YC
Ann Clin Transl Neurol 2021 Nov;8(11):2121-2131. Epub 2021 Oct 15 doi: 10.1002/acn3.51467. PMID: 34652888 Free PMC Article

Clinical Significance of Magnetic Resonance Imaging Markers of Vascular Brain Injury: A Systematic Review and Meta-analysis.

Debette S, Schilling S, Duperron MG, Larsson SC, Markus HS
JAMA Neurol 2019 Jan 1;76(1):81-94. doi: 10.1001/jamaneurol.2018.3122. PMID: 30422209 Free PMC Article

See all (14828)

Recent systematic reviews

Efficacy and Safety of Curcumin and Curcuma longa Extract in the Treatment of Arthritis: A Systematic Review and Meta-Analysis of Randomized Controlled Trial.

Zeng L, Yang T, Yang K, Yu G, Li J, Xiang W, Chen H
Front Immunol 2022;13:891822. Epub 2022 Jul 22 doi: 10.3389/fimmu.2022.891822. PMID: 35935936 Free PMC Article

Physical activity as a protective factor for dementia and Alzheimer's disease: systematic review, meta-analysis and quality assessment of cohort and case-control studies.

Iso-Markku P, Kujala UM, Knittle K, Polet J, Vuoksimaa E, Waller K
Br J Sports Med 2022 Jun;56(12):701-709. Epub 2022 Mar 17 doi: 10.1136/bjsports-2021-104981. PMID: 35301183 Free PMC Article

2021 American College of Rheumatology Guideline for the Treatment of Juvenile Idiopathic Arthritis: Therapeutic Approaches for Oligoarthritis, Temporomandibular Joint Arthritis, and Systemic Juvenile Idiopathic Arthritis.

Onel KB, Horton DB, Lovell DJ, Shenoi S, Cuello CA, Angeles-Han ST, Becker ML, Cron RQ, Feldman BM, Ferguson PJ, Gewanter H, Guzman J, Kimura Y, Lee T, Murphy K, Nigrovic PA, Ombrello MJ, Rabinovich CE, Tesher M, Twilt M, Klein-Gitelman M, Barbar-Smiley F, Cooper AM, Edelheit B, Gillispie-Taylor M, Hays K, Mannion ML, Peterson R, Flanagan E, Saad N, Sullivan N, Szymanski AM, Trachtman R, Turgunbaev M, Veiga K, Turner AS, Reston JT
Arthritis Rheumatol 2022 Apr;74(4):553-569. Epub 2022 Mar 1 doi: 10.1002/art.42037. PMID: 35233993 Free PMC Article

Cannabinoids for the treatment of dementia.

Exercise Therapy in Juvenile Idiopathic Arthritis: A Systematic Review and Meta-Analysis.

Kuntze G, Nesbitt C, Whittaker JL, Nettel-Aguirre A, Toomey C, Esau S, Doyle-Baker PK, Shank J, Brooks J, Benseler S, Emery CA
Arch Phys Med Rehabil 2018 Jan;99(1):178-193.e1. Epub 2017 Jul 18 doi: 10.1016/j.apmr.2017.05.030. PMID: 28729171

See all (639)

MedGen

National Center for Biotechnology Information

Send to:

Juvenile or adult CACH syndrome

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

Related information

Recent activity