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Atypical Inclusion-Body Disease

MedGen UID:
155921
•Concept ID:
C0751776
•
Disease or Syndrome
Synonyms: Atypical Inclusion Body Disease; Atypical Inclusion-Body Diseases; Inclusion-Body Disease, Atypical; Inclusion-Body Diseases, Atypical

Professional guidelines

PubMed

Drug Treatment of Progressive Myoclonic Epilepsy.
Holmes GL
Paediatr Drugs 2020 Apr;22(2):149-164. doi: 10.1007/s40272-019-00378-y. PMID: 31939107Free PMC Article
Lafora disease: from genotype to phenotype.
Parihar R, Rai A, Ganesh S
J Genet 2018 Jul;97(3):611-624. PMID: 30027899
Treatment of myoclonic seizures.
Striano P, Belcastro V
Expert Rev Neurother 2012 Dec;12(12):1411-7; quiz 1418. doi: 10.1586/ern.12.90. PMID: 23237348

Recent clinical studies

Etiology

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P
Seizure 2019 Oct;71:247-257. Epub 2019 Aug 23 doi: 10.1016/j.seizure.2019.08.012. PMID: 31476531Free PMC Article
Development and validation of QRISK3 risk prediction algorithms to estimate future risk of cardiovascular disease: prospective cohort study.
Hippisley-Cox J, Coupland C, Brindle P
BMJ 2017 May 23;357:j2099. doi: 10.1136/bmj.j2099. PMID: 28536104Free PMC Article
Lafora disease.
Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA
Epileptic Disord 2016 Sep 1;18(S2):38-62. doi: 10.1684/epd.2016.0842. PMID: 27702709Free PMC Article
Polyglutamine (PolyQ) diseases: genetics to treatments.
Fan HC, Ho LI, Chi CS, Chen SJ, Peng GS, Chan TM, Lin SZ, Harn HJ
Cell Transplant 2014;23(4-5):441-58. doi: 10.3727/096368914X678454. PMID: 24816443
Progressive myoclonic epilepsy.
Zupanc ML, Legros B
Cerebellum 2004;3(3):156-71. doi: 10.1080/14734220410035356. PMID: 15543806

Diagnosis

Epilepsy in neurodegenerative diseases.
Neri S, Mastroianni G, Gardella E, Aguglia U, Rubboli G
Epileptic Disord 2022 Apr 1;24(2):249-273. doi: 10.1684/epd.2021.1406. PMID: 35596580
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P
Seizure 2019 Oct;71:247-257. Epub 2019 Aug 23 doi: 10.1016/j.seizure.2019.08.012. PMID: 31476531Free PMC Article
Spinocerebellar ataxias.
Soong BW, Morrison PJ
Handb Clin Neurol 2018;155:143-174. doi: 10.1016/B978-0-444-64189-2.00010-X. PMID: 29891056
Lafora disease.
Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA
Epileptic Disord 2016 Sep 1;18(S2):38-62. doi: 10.1684/epd.2016.0842. PMID: 27702709Free PMC Article
Neuronal ceroid lipofuscinoses.
Nita DA, Mole SE, Minassian BA
Epileptic Disord 2016 Sep 1;18(S2):73-88. doi: 10.1684/epd.2016.0844. PMID: 27629553

Therapy

Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model.
Donohue KJ, Fitzsimmons B, Bruntz RC, Markussen KH, Young LEA, Clarke HA, Coburn PT, Griffith LE, Sanders W, Klier J, Burke SN, Maurer AP, Minassian BA, Sun RC, Kordasiewisz HB, Gentry MS
Neurotherapeutics 2023 Oct;20(6):1808-1819. Epub 2023 Sep 12 doi: 10.1007/s13311-023-01434-9. PMID: 37700152Free PMC Article
Management of epilepsy in MERRF syndrome.
Finsterer J, Zarrouk-Mahjoub S
Seizure 2017 Aug;50:166-170. Epub 2017 Jun 24 doi: 10.1016/j.seizure.2017.06.010. PMID: 28686997
Treatment of myoclonic seizures.
Striano P, Belcastro V
Expert Rev Neurother 2012 Dec;12(12):1411-7; quiz 1418. doi: 10.1586/ern.12.90. PMID: 23237348
Animal models.
Coppola A, Moshé SL
Handb Clin Neurol 2012;107:63-98. doi: 10.1016/B978-0-444-52898-8.00004-5. PMID: 22938964
Clobazam.
Ng YT, Collins SD
Neurotherapeutics 2007 Jan;4(1):138-44. doi: 10.1016/j.nurt.2006.11.002. PMID: 17199029Free PMC Article

Prognosis

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P
Seizure 2019 Oct;71:247-257. Epub 2019 Aug 23 doi: 10.1016/j.seizure.2019.08.012. PMID: 31476531Free PMC Article
Development and validation of QRISK3 risk prediction algorithms to estimate future risk of cardiovascular disease: prospective cohort study.
Hippisley-Cox J, Coupland C, Brindle P
BMJ 2017 May 23;357:j2099. doi: 10.1136/bmj.j2099. PMID: 28536104Free PMC Article
Lafora disease.
Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA
Epileptic Disord 2016 Sep 1;18(S2):38-62. doi: 10.1684/epd.2016.0842. PMID: 27702709Free PMC Article
Progressive Myoclonus Epilepsies.
Kälviäinen R
Semin Neurol 2015 Jun;35(3):293-9. Epub 2015 Jun 10 doi: 10.1055/s-0035-1552620. PMID: 26060909
The progressive myoclonic epilepsies.
Malek N, Stewart W, Greene J
Pract Neurol 2015 Jun;15(3):164-71. Epub 2015 Feb 26 doi: 10.1136/practneurol-2014-000994. PMID: 25720773

Clinical prediction guides

Atypical presentations of inclusion body myositis: Clinical characteristics and long-term outcomes.
Alamr M, Pinto MV, Naddaf E
Muscle Nerve 2022 Dec;66(6):686-693. Epub 2022 Sep 18 doi: 10.1002/mus.27716. PMID: 36052422
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.
Riva A, Orsini A, Scala M, Taramasso V, Canafoglia L, d'Orsi G, Di Claudio MT, Avolio C, D'Aniello A, Elia M, Franceschetti S, Di Gennaro G, Bisulli F, Tinuper P, Tappatà M, Romeo A, Freri E, Marini C, Costa C, Sofia V, Ferlazzo E, Magaudda A, Veggiotti P, Gennaro E, Pistorio A, Minetti C, Bianchi A, Striano S, Michelucci R, Zara F, Minassian BA, Striano P; Italian League Against Epilepsy Genetic Commission
J Neurol Sci 2021 May 15;424:117409. Epub 2021 Mar 20 doi: 10.1016/j.jns.2021.117409. PMID: 33773408Free PMC Article
Development and validation of QRISK3 risk prediction algorithms to estimate future risk of cardiovascular disease: prospective cohort study.
Hippisley-Cox J, Coupland C, Brindle P
BMJ 2017 May 23;357:j2099. doi: 10.1136/bmj.j2099. PMID: 28536104Free PMC Article
KCTD7-related progressive myoclonus epilepsy.
Van Bogaert P
Epileptic Disord 2016 Sep 1;18(S2):115-119. doi: 10.1684/epd.2016.0856. PMID: 27629772
Sialidoses.
Franceschetti S, Canafoglia L
Epileptic Disord 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. PMID: 27621198

Recent systematic reviews

KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Yoganathan S, Whitney R, Thomas M, Danda S, Chettali AM, Prasad AN, Farhan SMK, AlSowat D, Abukhaled M, Aldhalaan H, Gowda VK, Kinhal UV, Bylappa AY, Konanki R, Lingappa L, Parchuri BM, Appendino JP, Scantlebury MH, Cunningham J, Hadjinicolaou A, El Achkar CM, Kamate M, Menon RN, Jose M, Riordan G, Kannan L, Jain V, Manokaran RK, Chau V, Donner EJ, Costain G, Minassian BA, Jain P
Epilepsia 2024 Mar;65(3):709-724. Epub 2024 Jan 17 doi: 10.1111/epi.17880. PMID: 38231304
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Pondrelli F, Minardi R, Muccioli L, Zenesini C, Vignatelli L, Licchetta L, Mostacci B, Tinuper P, Vander Kooi CW, Gentry MS, Bisulli F
Orphanet J Rare Dis 2023 Sep 2;18(1):263. doi: 10.1186/s13023-023-02880-6. PMID: 37658439Free PMC Article
A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.
Mir A, Alghamdi A, Alotaibi W, Samreen D, Alotaibi M, Albaradie R, Bashir S
Epileptic Disord 2022 Aug 1;24(4):633-646. doi: 10.1684/epd.2022.1439. PMID: 35770766
Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.
Pondrelli F, Muccioli L, Licchetta L, Mostacci B, Zenesini C, Tinuper P, Vignatelli L, Bisulli F
Orphanet J Rare Dis 2021 Aug 16;16(1):362. doi: 10.1186/s13023-021-01989-w. PMID: 34399803Free PMC Article
Prokinetic agents and laryngopharyngeal reflux disease: Prokinetic agents and laryngopharyngeal reflux disease: a systematic review.
Glicksman JT, Mick PT, Fung K, Carroll TL
Laryngoscope 2014 Oct;124(10):2375-9. Epub 2014 Jun 10 doi: 10.1002/lary.24738. PMID: 24782414

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