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Rare neurologic disease with psychiatric involvement

MedGen UID:
1842807
Concept ID:
C5681544
Disease or Syndrome
Orphanet: ORPHA98033

Professional guidelines

PubMed

Kidd DP
Pract Neurol 2023 Oct;23(5):386-400. Epub 2023 Sep 29 doi: 10.1136/pn-2023-003875. PMID: 37775123
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725
Magro-Checa C, Zirkzee EJ, Huizinga TW, Steup-Beekman GM
Drugs 2016 Mar;76(4):459-83. doi: 10.1007/s40265-015-0534-3. PMID: 26809245Free PMC Article

Recent clinical studies

Etiology

Nelson MR, Liu P, Agrawal A, Yip O, Blumenfeld J, Traglia M, Kim MJ, Koutsodendris N, Rao A, Grone B, Hao Y, Yoon SY, Xu Q, De Leon S, Choenyi T, Thomas R, Lopera F, Quiroz YT, Arboleda-Velasquez JF, Reiman EM, Mahley RW, Huang Y
Nat Neurosci 2023 Dec;26(12):2104-2121. Epub 2023 Nov 13 doi: 10.1038/s41593-023-01480-8. PMID: 37957317Free PMC Article
Kunkle BW, Schmidt M, Klein HU, Naj AC, Hamilton-Nelson KL, Larson EB, Evans DA, De Jager PL, Crane PK, Buxbaum JD, Ertekin-Taner N, Barnes LL, Fallin MD, Manly JJ, Go RCP, Obisesan TO, Kamboh MI, Bennett DA, Hall KS, Goate AM, Foroud TM, Martin ER, Wang LS, Byrd GS, Farrer LA, Haines JL, Schellenberg GD, Mayeux R, Pericak-Vance MA, Reitz C; Writing Group for the Alzheimer’s Disease Genetics Consortium (ADGC), Graff-Radford NR, Martinez I, Ayodele T, Logue MW, Cantwell LB, Jean-Francois M, Kuzma AB, Adams LD, Vance JM, Cuccaro ML, Chung J, Mez J, Lunetta KL, Jun GR, Lopez OL, Hendrie HC, Reiman EM, Kowall NW, Leverenz JB, Small SA, Levey AI, Golde TE, Saykin AJ, Starks TD, Albert MS, Hyman BT, Petersen RC, Sano M, Wisniewski T, Vassar R, Kaye JA, Henderson VW, DeCarli C, LaFerla FM, Brewer JB, Miller BL, Swerdlow RH, Van Eldik LJ, Paulson HL, Trojanowski JQ, Chui HC, Rosenberg RN, Craft S, Grabowski TJ, Asthana S, Morris JC, Strittmatter SM, Kukull WA
JAMA Neurol 2021 Jan 1;78(1):102-113. doi: 10.1001/jamaneurol.2020.3536. PMID: 33074286Free PMC Article
Kovacs GG, Lukic MJ, Irwin DJ, Arzberger T, Respondek G, Lee EB, Coughlin D, Giese A, Grossman M, Kurz C, McMillan CT, Gelpi E, Compta Y, van Swieten JC, Laat LD, Troakes C, Al-Sarraj S, Robinson JL, Roeber S, Xie SX, Lee VM, Trojanowski JQ, Höglinger GU
Acta Neuropathol 2020 Aug;140(2):99-119. Epub 2020 May 7 doi: 10.1007/s00401-020-02158-2. PMID: 32383020Free PMC Article
Goodfellow JA, Mackay GA
J R Coll Physicians Edinb 2019 Dec;49(4):287-294. doi: 10.4997/JRCPE.2019.407. PMID: 31808454
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725

Diagnosis

Di Stefano V, Rispoli MG, Pellegrino N, Graziosi A, Rotondo E, Napoli C, Pietrobon D, Brighina F, Parisi P
J Neurol Neurosurg Psychiatry 2020 Jul;91(7):764-771. Epub 2020 May 19 doi: 10.1136/jnnp-2020-322850. PMID: 32430436Free PMC Article
Kovacs GG, Lukic MJ, Irwin DJ, Arzberger T, Respondek G, Lee EB, Coughlin D, Giese A, Grossman M, Kurz C, McMillan CT, Gelpi E, Compta Y, van Swieten JC, Laat LD, Troakes C, Al-Sarraj S, Robinson JL, Roeber S, Xie SX, Lee VM, Trojanowski JQ, Höglinger GU
Acta Neuropathol 2020 Aug;140(2):99-119. Epub 2020 May 7 doi: 10.1007/s00401-020-02158-2. PMID: 32383020Free PMC Article
Goodfellow JA, Mackay GA
J R Coll Physicians Edinb 2019 Dec;49(4):287-294. doi: 10.4997/JRCPE.2019.407. PMID: 31808454
Magro-Checa C, Zirkzee EJ, Huizinga TW, Steup-Beekman GM
Drugs 2016 Mar;76(4):459-83. doi: 10.1007/s40265-015-0534-3. PMID: 26809245Free PMC Article
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Therapy

Kidd DP
Pract Neurol 2023 Oct;23(5):386-400. Epub 2023 Sep 29 doi: 10.1136/pn-2023-003875. PMID: 37775123
Di Stefano V, Rispoli MG, Pellegrino N, Graziosi A, Rotondo E, Napoli C, Pietrobon D, Brighina F, Parisi P
J Neurol Neurosurg Psychiatry 2020 Jul;91(7):764-771. Epub 2020 May 19 doi: 10.1136/jnnp-2020-322850. PMID: 32430436Free PMC Article
Goodfellow JA, Mackay GA
J R Coll Physicians Edinb 2019 Dec;49(4):287-294. doi: 10.4997/JRCPE.2019.407. PMID: 31808454
Magro-Checa C, Zirkzee EJ, Huizinga TW, Steup-Beekman GM
Drugs 2016 Mar;76(4):459-83. doi: 10.1007/s40265-015-0534-3. PMID: 26809245Free PMC Article
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Prognosis

Kidd DP
Pract Neurol 2023 Oct;23(5):386-400. Epub 2023 Sep 29 doi: 10.1136/pn-2023-003875. PMID: 37775123
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V
Brain 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. PMID: 34382076Free PMC Article
Goodfellow JA, Mackay GA
J R Coll Physicians Edinb 2019 Dec;49(4):287-294. doi: 10.4997/JRCPE.2019.407. PMID: 31808454
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Clinical prediction guides

Premi E, Pengo M, Mattioli I, Cantoni V, Dukart J, Gasparotti R, Buratti E, Padovani A, Bocchetta M, Todd EG, Bouzigues A, Cash DM, Convery RS, Russell LL, Foster P, Thomas DL, van Swieten JC, Jiskoot LC, Seelaar H, Galimberti D, Sanchez-Valle R, Laforce R Jr, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, Rowe JB, Tsvetanov KA, Vandenberghe R, Finger E, Tiraboschi P, de Mendonça A, Santana I, Butler CR, Ducharme S, Gerhard A, Levin J, Otto M, Sorbi S, Le Ber I, Pasquier F, Rohrer JD, Borroni B; Genetic Frontotemporal dementia Initiative (GENFI)
Neurobiol Dis 2023 Apr;179:106068. Epub 2023 Mar 8 doi: 10.1016/j.nbd.2023.106068. PMID: 36898614
López-Rivera JA, Leu C, Macnee M, Khoury J, Hoffmann L, Coras R, Kobow K, Bhattarai N, Pérez-Palma E, Hamer H, Brandner S, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Butler E, Genovese G, Becker K, Altmüller J, Niestroj LM, Ferguson L, Busch RM, Nürnberg P, Najm I, Blümcke I, Lal D
Brain 2023 Apr 19;146(4):1342-1356. doi: 10.1093/brain/awac376. PMID: 36226386Free PMC Article
Brünger T, Pérez-Palma E, Montanucci L, Nothnagel M, Møller RS, Schorge S, Zuberi S, Symonds J, Lemke JR, Brunklaus A, Traynelis SF, May P, Lal D
Brain 2023 Mar 1;146(3):923-934. doi: 10.1093/brain/awac305. PMID: 36036558Free PMC Article
Kunkle BW, Schmidt M, Klein HU, Naj AC, Hamilton-Nelson KL, Larson EB, Evans DA, De Jager PL, Crane PK, Buxbaum JD, Ertekin-Taner N, Barnes LL, Fallin MD, Manly JJ, Go RCP, Obisesan TO, Kamboh MI, Bennett DA, Hall KS, Goate AM, Foroud TM, Martin ER, Wang LS, Byrd GS, Farrer LA, Haines JL, Schellenberg GD, Mayeux R, Pericak-Vance MA, Reitz C; Writing Group for the Alzheimer’s Disease Genetics Consortium (ADGC), Graff-Radford NR, Martinez I, Ayodele T, Logue MW, Cantwell LB, Jean-Francois M, Kuzma AB, Adams LD, Vance JM, Cuccaro ML, Chung J, Mez J, Lunetta KL, Jun GR, Lopez OL, Hendrie HC, Reiman EM, Kowall NW, Leverenz JB, Small SA, Levey AI, Golde TE, Saykin AJ, Starks TD, Albert MS, Hyman BT, Petersen RC, Sano M, Wisniewski T, Vassar R, Kaye JA, Henderson VW, DeCarli C, LaFerla FM, Brewer JB, Miller BL, Swerdlow RH, Van Eldik LJ, Paulson HL, Trojanowski JQ, Chui HC, Rosenberg RN, Craft S, Grabowski TJ, Asthana S, Morris JC, Strittmatter SM, Kukull WA
JAMA Neurol 2021 Jan 1;78(1):102-113. doi: 10.1001/jamaneurol.2020.3536. PMID: 33074286Free PMC Article
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Recent systematic reviews

Ozoner B, Gungor A, Ture H, Ture U
World Neurosurg 2022 Jun;162:e288-e300. Epub 2022 Mar 9 doi: 10.1016/j.wneu.2022.03.006. PMID: 35276398
Burlina A, Biasucci G, Carbone MT, Cazzorla C, Paci S, Pochiero F, Spada M, Tummolo A, Zuvadelli J, Leuzzi V
Orphanet J Rare Dis 2021 Nov 16;16(1):476. doi: 10.1186/s13023-021-02086-8. PMID: 34784942Free PMC Article
Franklin GL, Camargo CHF, Meira AT, Lima NSC, Teive HAG
Cerebellum 2021 Apr;20(2):254-265. Epub 2020 Oct 7 doi: 10.1007/s12311-020-01198-4. PMID: 33029762
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725
Aiken CB
J Clin Psychiatry 2007 Aug;68(8):1230-6. PMID: 17854248

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