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progressive cerebellar atrophy

MedGen UID:
351255
•Concept ID:
C1864929
•
Disease or Syndrome
Synonyms: Cerebellar atrophy, progressive; Progressive cerebellar atrophy

Professional guidelines

PubMed

Dysphagia in multiple system atrophy consensus statement on diagnosis, prognosis and treatment.
Calandra-Buonaura G, Alfonsi E, Vignatelli L, Benarroch EE, Giannini G, Iranzo A, Low PA, Martinelli P, Provini F, Quinn N, Tolosa E, Wenning GK, Abbruzzese G, Bower P, Antonini A, Bhatia KP, Bonavita J, Pellecchia MT, Pizzorni N, Tison F, Ghorayeb I, Meissner WG, Ozawa T, Pacchetti C, Pozzi NG, Vicini C, Schindler A, Cortelli P, Kaufmann H
Parkinsonism Relat Disord 2021 May;86:124-132. Epub 2021 Mar 30 doi: 10.1016/j.parkreldis.2021.03.027. PMID: 33839029
Immune-mediated Cerebellar Ataxias: Practical Guidelines and Therapeutic Challenges.
Mitoma H, Manto M, Hampe CS
Curr Neuropharmacol 2019;17(1):33-58. doi: 10.2174/1570159X16666180917105033. PMID: 30221603Free 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

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K
Brain 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056. PMID: 38456468Free PMC Article
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Muthusamy K, Perez-Ortiz JM, Ligezka AN, Altassan R, Johnsen C, Schultz MJ, Patterson MC, Morava E
Genet Med 2024 Feb;26(2):101027. Epub 2023 Nov 10 doi: 10.1016/j.gim.2023.101027. PMID: 37955240
Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.
Mascalchi M, Mari F, Berti B, Bartolini E, Lenge M, Bianchi A, Antonucci L, Santorelli FM, Garavaglia B, Guerrini R
Cerebellum 2017 Jun;16(3):742-745. doi: 10.1007/s12311-017-0843-z. PMID: 28091863
Association of Progressive Cerebellar Atrophy With Long-term Outcome in Patients With Anti-N-Methyl-d-Aspartate Receptor Encephalitis.
Iizuka T, Kaneko J, Tominaga N, Someko H, Nakamura M, Ishima D, Kitamura E, Masuda R, Oguni E, Yanagisawa T, Kanazawa N, Dalmau J, Nishiyama K
JAMA Neurol 2016 Jun 1;73(6):706-13. doi: 10.1001/jamaneurol.2016.0232. PMID: 27111481Free PMC Article
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.
Wolf NI, Koenig M
Handb Clin Neurol 2013;113:1869-78. doi: 10.1016/B978-0-444-59565-2.00057-5. PMID: 23622410

Diagnosis

Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Muthusamy K, Perez-Ortiz JM, Ligezka AN, Altassan R, Johnsen C, Schultz MJ, Patterson MC, Morava E
Genet Med 2024 Feb;26(2):101027. Epub 2023 Nov 10 doi: 10.1016/j.gim.2023.101027. PMID: 37955240
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.
Peretz RH, Zein WM, Hufnagel RB, Ku C, Godfrey R, Wolfe L, Adams D, Gahl W, Toro C
Am J Med Genet A 2023 Feb;191(2):624-629. Epub 2022 Dec 21 doi: 10.1002/ajmg.a.63045. PMID: 36541585
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
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.
Iwama K, Sasaki M, Hirabayashi S, Ohba C, Iwabuchi E, Miyatake S, Nakashima M, Miyake N, Ito S, Saitsu H, Matsumoto N
J Hum Genet 2016 Jun;61(6):527-31. Epub 2016 Feb 18 doi: 10.1038/jhg.2016.9. PMID: 26888482
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.
Wolf NI, Koenig M
Handb Clin Neurol 2013;113:1869-78. doi: 10.1016/B978-0-444-59565-2.00057-5. PMID: 23622410

Therapy

Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Muthusamy K, Perez-Ortiz JM, Ligezka AN, Altassan R, Johnsen C, Schultz MJ, Patterson MC, Morava E
Genet Med 2024 Feb;26(2):101027. Epub 2023 Nov 10 doi: 10.1016/j.gim.2023.101027. PMID: 37955240
Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.
McGraw CM, Mahida S, Jayakar P, Koh HY, Taylor A, Resnick T, Rodan L, Schwartz MA, Ejaz A, Sankaran VG, Berry G, Poduri A
Ann Clin Transl Neurol 2021 Mar;8(3):716-722. Epub 2021 Jan 26 doi: 10.1002/acn3.51272. PMID: 33497533Free PMC Article
JCV GCN in a natalizumab-treated MS patient is associated with mutations of the VP1 capsid gene.
Agnihotri SP, Dang X, Carter JL, Fife TD, Bord E, Batson S, Koralnik IJ
Neurology 2014 Aug 19;83(8):727-32. Epub 2014 Jul 18 doi: 10.1212/WNL.0000000000000713. PMID: 25037207Free PMC Article
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, Nasir R, Stoler JM, Barkovich AJ, Watanabe M, Yuzaki M, Mochida GH
Neurology 2013 Oct 15;81(16):1378-86. Epub 2013 Sep 27 doi: 10.1212/WNL.0b013e3182a841a3. PMID: 24078737Free PMC Article
Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.
Sánchez-Albisua I, Schöning M, Jurkat-Rott K, Lerche H
Pediatr Neurol 2013 Oct;49(4):286-8. Epub 2013 Jul 4 doi: 10.1016/j.pediatrneurol.2013.04.011. PMID: 23831250

Prognosis

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K
Brain 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056. PMID: 38456468Free PMC Article
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Muthusamy K, Perez-Ortiz JM, Ligezka AN, Altassan R, Johnsen C, Schultz MJ, Patterson MC, Morava E
Genet Med 2024 Feb;26(2):101027. Epub 2023 Nov 10 doi: 10.1016/j.gim.2023.101027. PMID: 37955240
Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.
Bryen SJ, Zhang K, Dziaduch G, Bommireddipalli S, Naseri T, Reupena MS, Viali S, Minster RL, Waddell LB, Charlton A, O'Grady GL, Evesson FJ, Cooper ST
Clin Genet 2023 May;103(5):553-559. Epub 2023 Feb 27 doi: 10.1111/cge.14311. PMID: 36799557Free PMC Article
Association of Progressive Cerebellar Atrophy With Long-term Outcome in Patients With Anti-N-Methyl-d-Aspartate Receptor Encephalitis.
Iizuka T, Kaneko J, Tominaga N, Someko H, Nakamura M, Ishima D, Kitamura E, Masuda R, Oguni E, Yanagisawa T, Kanazawa N, Dalmau J, Nishiyama K
JAMA Neurol 2016 Jun 1;73(6):706-13. doi: 10.1001/jamaneurol.2016.0232. PMID: 27111481Free PMC Article
Neurology of inherited glycosylation disorders.
Freeze HH, Eklund EA, Ng BG, Patterson MC
Lancet Neurol 2012 May;11(5):453-66. doi: 10.1016/S1474-4422(12)70040-6. PMID: 22516080Free PMC Article

Clinical prediction guides

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K
Brain 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056. PMID: 38456468Free PMC Article
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Muthusamy K, Perez-Ortiz JM, Ligezka AN, Altassan R, Johnsen C, Schultz MJ, Patterson MC, Morava E
Genet Med 2024 Feb;26(2):101027. Epub 2023 Nov 10 doi: 10.1016/j.gim.2023.101027. PMID: 37955240
Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.
Bryen SJ, Zhang K, Dziaduch G, Bommireddipalli S, Naseri T, Reupena MS, Viali S, Minster RL, Waddell LB, Charlton A, O'Grady GL, Evesson FJ, Cooper ST
Clin Genet 2023 May;103(5):553-559. Epub 2023 Feb 27 doi: 10.1111/cge.14311. PMID: 36799557Free PMC Article
Brain atrophy following hemiplegic migraine attacks.
Pelzer N, Hoogeveen ES, Ferrari MD, Poll-The BT, Kruit MC, Terwindt GM
Cephalalgia 2018 May;38(6):1199-1202. Epub 2017 Jul 27 doi: 10.1177/0333102417723569. PMID: 28750589Free PMC Article
Association of Progressive Cerebellar Atrophy With Long-term Outcome in Patients With Anti-N-Methyl-d-Aspartate Receptor Encephalitis.
Iizuka T, Kaneko J, Tominaga N, Someko H, Nakamura M, Ishima D, Kitamura E, Masuda R, Oguni E, Yanagisawa T, Kanazawa N, Dalmau J, Nishiyama K
JAMA Neurol 2016 Jun 1;73(6):706-13. doi: 10.1001/jamaneurol.2016.0232. PMID: 27111481Free PMC Article

Recent systematic reviews

Magnetic resonance imaging and positron emission tomography in anti-NMDA receptor encephalitis: A systematic review.
Bacchi S, Franke K, Wewegama D, Needham E, Patel S, Menon D
J Clin Neurosci 2018 Jun;52:54-59. Epub 2018 Mar 28 doi: 10.1016/j.jocn.2018.03.026. PMID: 29605275

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