Pontocerebellar disorders

Rachel G. Sinkey; Anthony O. Odibo

doi:10.1016/B978-0-323-44548-1.00142-X

Pontocerebellar disorders

Rachel G. Sinkey
, Anthony O. Odibo

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Abstract

Autosomal recessive pontocerebellar hypoplasia comprises a group of devastating neurodegenerative disorders that lead to severe motor and cognitive impairment. Life expectancy varies based on subtype and is unpredictable; few patients live into adulthood. Prenatal diagnosis is challenging, as midtrimester imaging is usually normal. Families with a known mutation should be offered genetic counseling to discuss deoxyribonucleic acid banking of affected individuals, preimplantation, and prenatal testing options.

Original language	English
Title of host publication	Obstetric Imaging
Subtitle of host publication	Fetal Diagnosis and Care, 2nd Edition
Publisher	Elsevier
Pages	581-584.e1
ISBN (Electronic)	9780323445481
DOIs	https://doi.org/10.1016/B978-0-323-44548-1.00142-X
State	Published - Jan 1 2017

Keywords

Microcephaly
Motor and cognitive delay
Progressive neurodegenerative disorder
Seizures

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10.1016/B978-0-323-44548-1.00142-X

Cite this

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AB - Autosomal recessive pontocerebellar hypoplasia comprises a group of devastating neurodegenerative disorders that lead to severe motor and cognitive impairment. Life expectancy varies based on subtype and is unpredictable; few patients live into adulthood. Prenatal diagnosis is challenging, as midtrimester imaging is usually normal. Families with a known mutation should be offered genetic counseling to discuss deoxyribonucleic acid banking of affected individuals, preimplantation, and prenatal testing options.

KW - Microcephaly

KW - Motor and cognitive delay

KW - Progressive neurodegenerative disorder

KW - Seizures

UR - https://www.scopus.com/pages/publications/85076649744

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SP - 581-584.e1

BT - Obstetric Imaging

PB - Elsevier

ER -

Pontocerebellar disorders

Abstract

Keywords

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