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Congenital pontocerebellar hypoplasia

MedGen UID:
539937
•Concept ID:
C0266468
•
Congenital Abnormality
Synonyms: Congenital Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia
SNOMED CT: Congenital pontocerebellar hypoplasia (45163000)

Professional guidelines

PubMed

Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.
Jaillard A, Valence S, Vande Perre S, Dhombres F, Héron D, Billette de Villemeur T, Keren B, Afenjar A, Qebibo L, Harion M, Quenum-Miraillet G, Rodriguez D, Jouannic JM, Burglen L, Garel C
Prenat Diagn 2024 Jan;44(1):35-48. Epub 2024 Jan 2 doi: 10.1002/pd.6495. PMID: 38165124
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.
Ivanov I, Atkinson D, Litvinenko I, Angelova L, Andonova S, Mumdjiev H, Pacheva I, Panova M, Yordanova R, Belovejdov V, Petrova A, Bosheva M, Shmilev T, Savov A, Jordanova A
Eur J Paediatr Neurol 2018 Jul;22(4):674-681. Epub 2018 Apr 3 doi: 10.1016/j.ejpn.2018.03.011. PMID: 29656927
Cerebellar hypoplasia: differential diagnosis and diagnostic approach.
Poretti A, Boltshauser E, Doherty D
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):211-26. Epub 2014 May 16 doi: 10.1002/ajmg.c.31398. PMID: 24839100

Recent clinical studies

Etiology

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC
Brain 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212. PMID: 27543974Free PMC Article

Diagnosis

SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.
Bitetto G, Malaguti MC, Ceravolo R, Monfrini E, Straniero L, Morini A, Di Giacopo R, Frosini D, Palermo G, Biella F, Ronchi D, Duga S, Taroni F, Corti S, Comi GP, Bresolin N, Giometto B, Di Fonzo A
Parkinsonism Relat Disord 2020 May;74:1-5. Epub 2020 Apr 2 doi: 10.1016/j.parkreldis.2020.03.018. PMID: 32259769

Prognosis

SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.
Bitetto G, Malaguti MC, Ceravolo R, Monfrini E, Straniero L, Morini A, Di Giacopo R, Frosini D, Palermo G, Biella F, Ronchi D, Duga S, Taroni F, Corti S, Comi GP, Bresolin N, Giometto B, Di Fonzo A
Parkinsonism Relat Disord 2020 May;74:1-5. Epub 2020 Apr 2 doi: 10.1016/j.parkreldis.2020.03.018. PMID: 32259769

Clinical prediction guides

SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.
Bitetto G, Malaguti MC, Ceravolo R, Monfrini E, Straniero L, Morini A, Di Giacopo R, Frosini D, Palermo G, Biella F, Ronchi D, Duga S, Taroni F, Corti S, Comi GP, Bresolin N, Giometto B, Di Fonzo A
Parkinsonism Relat Disord 2020 May;74:1-5. Epub 2020 Apr 2 doi: 10.1016/j.parkreldis.2020.03.018. PMID: 32259769
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC
Brain 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212. PMID: 27543974Free PMC Article
Early fatal pontocerebellar hypoplasia with simplified cerebral gyration and pseudolissencephaly. A neuroradiological pitfall.
Hoffmann A, Weber P, Fallet-Bianco C, Radu EW, Probst A
Fetal Diagn Ther 2006;21(2):161-7. doi: 10.1159/000089296. PMID: 16490996

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