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Amyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia

MedGen UID:
462753
•Concept ID:
C3151403
•
Disease or Syndrome

Definition

A form of amyotrophic lateral sclerosis caused by heterozygous mutation(s) in the VCP gene, encoding transitional endoplasmic reticulum ATPase. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAmyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia

Professional guidelines

PubMed

Cognitive Impairment in Older Adults: Epidemiology, Diagnosis, and Treatment.
Pérez Palmer N, Trejo Ortega B, Joshi P
Psychiatr Clin North Am 2022 Dec;45(4):639-661. Epub 2022 Oct 14 doi: 10.1016/j.psc.2022.07.010. PMID: 36396270
Speech and language therapy approaches to managing primary progressive aphasia.
Volkmer A, Rogalski E, Henry M, Taylor-Rubin C, Ruggero L, Khayum R, Kindell J, Gorno-Tempini ML, Warren JD, Rohrer JD
Pract Neurol 2020 Apr;20(2):154-161. Epub 2019 Jul 29 doi: 10.1136/practneurol-2018-001921. PMID: 31358572Free PMC Article
The Differential Diagnosis and Treatment of Atypical Parkinsonism.
Levin J, Kurz A, Arzberger T, Giese A, Höglinger GU
Dtsch Arztebl Int 2016 Feb 5;113(5):61-9. doi: 10.3238/arztebl.2016.0061. PMID: 26900156Free PMC Article

Recent clinical studies

Etiology

Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations.
Boeve BF, Boxer AL, Kumfor F, Pijnenburg Y, Rohrer JD
Lancet Neurol 2022 Mar;21(3):258-272. doi: 10.1016/S1474-4422(21)00341-0. PMID: 35182511
Progranulin as a therapeutic target in neurodegenerative diseases.
Rhinn H, Tatton N, McCaughey S, Kurnellas M, Rosenthal A
Trends Pharmacol Sci 2022 Aug;43(8):641-652. Epub 2022 Jan 15 doi: 10.1016/j.tips.2021.11.015. PMID: 35039149
Frontotemporal Dementia - Current Concepts.
Puppala GK, Gorthi SP, Chandran V, Gundabolu G
Neurol India 2021 Sep-Oct;69(5):1144-1152. doi: 10.4103/0028-3886.329593. PMID: 34747778
Frontotemporal Dementia: A Clinical Review.
Sivasathiaseelan H, Marshall CR, Agustus JL, Benhamou E, Bond RL, van Leeuwen JEP, Hardy CJD, Rohrer JD, Warren JD
Semin Neurol 2019 Apr;39(2):251-263. Epub 2019 Mar 29 doi: 10.1055/s-0039-1683379. PMID: 30925617
Frontotemporal dementia.
Bang J, Spina S, Miller BL
Lancet 2015 Oct 24;386(10004):1672-82. doi: 10.1016/S0140-6736(15)00461-4. PMID: 26595641Free PMC Article

Diagnosis

Frontotemporal Dementia, Where Do We Stand? A Narrative Review.
Antonioni A, Raho EM, Lopriore P, Pace AP, Latino RR, Assogna M, Mancuso M, Gragnaniello D, Granieri E, Pugliatti M, Di Lorenzo F, Koch G
Int J Mol Sci 2023 Jul 21;24(14) doi: 10.3390/ijms241411732. PMID: 37511491Free PMC Article
Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations.
Boeve BF, Boxer AL, Kumfor F, Pijnenburg Y, Rohrer JD
Lancet Neurol 2022 Mar;21(3):258-272. doi: 10.1016/S1474-4422(21)00341-0. PMID: 35182511
Frontotemporal Dementia.
Olney NT, Spina S, Miller BL
Neurol Clin 2017 May;35(2):339-374. doi: 10.1016/j.ncl.2017.01.008. PMID: 28410663Free PMC Article
Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria.
Strong MJ, Abrahams S, Goldstein LH, Woolley S, Mclaughlin P, Snowden J, Mioshi E, Roberts-South A, Benatar M, HortobáGyi T, Rosenfeld J, Silani V, Ince PG, Turner MR
Amyotroph Lateral Scler Frontotemporal Degener 2017 May;18(3-4):153-174. Epub 2017 Jan 5 doi: 10.1080/21678421.2016.1267768. PMID: 28054827Free PMC Article
Frontotemporal dementia.
Bang J, Spina S, Miller BL
Lancet 2015 Oct 24;386(10004):1672-82. doi: 10.1016/S0140-6736(15)00461-4. PMID: 26595641Free PMC Article

Therapy

UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target.
Willemse SW, Harley P, van Eijk RPA, Demaegd KC, Zelina P, Pasterkamp RJ, van Damme P, Ingre C, van Rheenen W, Veldink JH, Kiernan MC, Al-Chalabi A, van den Berg LH, Fratta P, van Es MA
J Neurol Neurosurg Psychiatry 2023 Aug;94(8):649-656. Epub 2023 Feb 3 doi: 10.1136/jnnp-2022-330504. PMID: 36737245Free PMC Article
Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.
Miller TM, Cudkowicz ME, Genge A, Shaw PJ, Sobue G, Bucelli RC, Chiò A, Van Damme P, Ludolph AC, Glass JD, Andrews JA, Babu S, Benatar M, McDermott CJ, Cochrane T, Chary S, Chew S, Zhu H, Wu F, Nestorov I, Graham D, Sun P, McNeill M, Fanning L, Ferguson TA, Fradette S; VALOR and OLE Working Group
N Engl J Med 2022 Sep 22;387(12):1099-1110. doi: 10.1056/NEJMoa2204705. PMID: 36129998
Frontotemporal dementia.
Miller B, Llibre Guerra JJ
Handb Clin Neurol 2019;165:33-45. doi: 10.1016/B978-0-444-64012-3.00003-4. PMID: 31727221
Amyotrophic Lateral Sclerosis: Autoimmune Pathogenic Mechanisms, Clinical Features, and Therapeutic Perspectives.
Ralli M, Lambiase A, Artico M, de Vincentiis M, Greco A
Isr Med Assoc J 2019 Jul;21(7):438-443. PMID: 31507117
Use of Stimulants in Bipolar Disorder.
Perugi G, Vannucchi G, Bedani F, Favaretto E
Curr Psychiatry Rep 2017 Jan;19(1):7. doi: 10.1007/s11920-017-0758-x. PMID: 28144880

Prognosis

Frontotemporal dementia: Past, present, and future.
Ulugut H, Pijnenburg YAL
Alzheimers Dement 2023 Nov;19(11):5253-5263. Epub 2023 Jun 28 doi: 10.1002/alz.13363. PMID: 37379561
Behavioral Variant Frontotemporal Dementia.
Boeve BF
Continuum (Minneap Minn) 2022 Jun 1;28(3):702-725. doi: 10.1212/CON.0000000000001105. PMID: 35678399Free PMC Article
Frontotemporal Dementia: A Clinical Review.
Sivasathiaseelan H, Marshall CR, Agustus JL, Benhamou E, Bond RL, van Leeuwen JEP, Hardy CJD, Rohrer JD, Warren JD
Semin Neurol 2019 Apr;39(2):251-263. Epub 2019 Mar 29 doi: 10.1055/s-0039-1683379. PMID: 30925617
Inflammation in ALS/FTD pathogenesis.
McCauley ME, Baloh RH
Acta Neuropathol 2019 May;137(5):715-730. Epub 2018 Nov 21 doi: 10.1007/s00401-018-1933-9. PMID: 30465257Free PMC Article
Frontotemporal dementia: diagnosis, deficits and management.
Bott NT, Radke A, Stephens ML, Kramer JH
Neurodegener Dis Manag 2014;4(6):439-54. doi: 10.2217/nmt.14.34. PMID: 25531687Free PMC Article

Clinical prediction guides

Frontotemporal dementia: Past, present, and future.
Ulugut H, Pijnenburg YAL
Alzheimers Dement 2023 Nov;19(11):5253-5263. Epub 2023 Jun 28 doi: 10.1002/alz.13363. PMID: 37379561
Behavioral Variant Frontotemporal Dementia.
Boeve BF
Continuum (Minneap Minn) 2022 Jun 1;28(3):702-725. doi: 10.1212/CON.0000000000001105. PMID: 35678399Free PMC Article
Frontotemporal Dementia: A Clinical Review.
Sivasathiaseelan H, Marshall CR, Agustus JL, Benhamou E, Bond RL, van Leeuwen JEP, Hardy CJD, Rohrer JD, Warren JD
Semin Neurol 2019 Apr;39(2):251-263. Epub 2019 Mar 29 doi: 10.1055/s-0039-1683379. PMID: 30925617
Inflammation in ALS/FTD pathogenesis.
McCauley ME, Baloh RH
Acta Neuropathol 2019 May;137(5):715-730. Epub 2018 Nov 21 doi: 10.1007/s00401-018-1933-9. PMID: 30465257Free PMC Article
Frontotemporal dementia: diagnosis, deficits and management.
Bott NT, Radke A, Stephens ML, Kramer JH
Neurodegener Dis Manag 2014;4(6):439-54. doi: 10.2217/nmt.14.34. PMID: 25531687Free PMC Article

Recent systematic reviews

Occupational Therapy Interventions in Patients with Frontotemporal Dementia: A Systematic Review.
Vlotinou P, Tsiakiri A, Detsaridou G, Nikova A, Tsiptsios D, Vadikolias K, Aggelousis N
Med Sci (Basel) 2023 Nov 6;11(4) doi: 10.3390/medsci11040071. PMID: 37987326Free PMC Article
Mini-Mental State Examination (MMSE) for the early detection of dementia in people with mild cognitive impairment (MCI).
Arevalo-Rodriguez I, Smailagic N, Roqué-Figuls M, Ciapponi A, Sanchez-Perez E, Giannakou A, Pedraza OL, Bonfill Cosp X, Cullum S
Cochrane Database Syst Rev 2021 Jul 27;7(7):CD010783. doi: 10.1002/14651858.CD010783.pub3. PMID: 34313331Free PMC Article
Magnesium for skeletal muscle cramps.
Garrison SR, Korownyk CS, Kolber MR, Allan GM, Musini VM, Sekhon RK, Dugré N
Cochrane Database Syst Rev 2020 Sep 21;9(9):CD009402. doi: 10.1002/14651858.CD009402.pub3. PMID: 32956536Free PMC Article
Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis.
Zou ZY, Zhou ZR, Che CH, Liu CY, He RL, Huang HP
J Neurol Neurosurg Psychiatry 2017 Jul;88(7):540-549. Epub 2017 Jan 5 doi: 10.1136/jnnp-2016-315018. PMID: 28057713
Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND).
Miller RG, Mitchell JD, Moore DH
Cochrane Database Syst Rev 2012 Mar 14;2012(3):CD001447. doi: 10.1002/14651858.CD001447.pub3. PMID: 22419278Free PMC Article

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