Spinal Muscular Atrophy

Bakri H. Elsheikh; W. David Arnold; John T. Kissel

doi:10.1016/B978-0-12-410529-4.00089-9

Spinal Muscular Atrophy

Bakri H. Elsheikh
, W. David Arnold
, John T. Kissel

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

1 Scopus citations

Abstract

Spinal muscular atrophy (SMA) includes a diverse group of hereditary disorders of the lower motor neuron. The most common form, accounting for 95% of SMA, is a proximal predominant autosomal recessive disease caused by homozygous loss of the survival motor neuron 1 (SMN1) gene and retention of varying copy number of the SMN2 gene. The combined effects lead to reduced SMN protein levels that are insufficient for normal motor neuron function. SMN-related SMA can be divided into subtypes based on age of onset and maximal motor milestones, and subtype severity correlates with SMN2 gene copy number. Diagnostic confirmation is obtained using genetic testing for homozygous deletion or mutation of the SMN1 gene. Currently treatment is limited to supportive care. Therapeutic development aimed at restoring SMN has been the most successful, and currently gene therapy to replace SMN1 and antisense oligonucleotide therapy to increase SMN production from SMN2 show the most promise.

Original language	English
Title of host publication	Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publication	Fifth Edition
Publisher	Elsevier Inc.
Pages	1075-1088
Number of pages	14
ISBN (Electronic)	9780124105294
ISBN (Print)	9780124105492
DOIs	https://doi.org/10.1016/B978-0-12-410529-4.00089-9
State	Published - Nov 13 2014

Keywords

Antisense oligonucleotide
Gene therapy
Genetic testing
Hypotonic infant
Kugelberg-Welander disease
Motor neuron disease
Spinal muscular atrophy
Werdnig-Hoffmann disease

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10.1016/B978-0-12-410529-4.00089-9

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title = "Spinal Muscular Atrophy",

abstract = "Spinal muscular atrophy (SMA) includes a diverse group of hereditary disorders of the lower motor neuron. The most common form, accounting for 95\% of SMA, is a proximal predominant autosomal recessive disease caused by homozygous loss of the survival motor neuron 1 (SMN1) gene and retention of varying copy number of the SMN2 gene. The combined effects lead to reduced SMN protein levels that are insufficient for normal motor neuron function. SMN-related SMA can be divided into subtypes based on age of onset and maximal motor milestones, and subtype severity correlates with SMN2 gene copy number. Diagnostic confirmation is obtained using genetic testing for homozygous deletion or mutation of the SMN1 gene. Currently treatment is limited to supportive care. Therapeutic development aimed at restoring SMN has been the most successful, and currently gene therapy to replace SMN1 and antisense oligonucleotide therapy to increase SMN production from SMN2 show the most promise.",

keywords = "Antisense oligonucleotide, Gene therapy, Genetic testing, Hypotonic infant, Kugelberg-Welander disease, Motor neuron disease, Spinal muscular atrophy, Werdnig-Hoffmann disease",

author = "Elsheikh, \{Bakri H.\} and \{David Arnold\}, W. and Kissel, \{John T.\}",

year = "2014",

month = nov,

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doi = "10.1016/B978-0-12-410529-4.00089-9",

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TY - CHAP

T1 - Spinal Muscular Atrophy

AU - Elsheikh, Bakri H.

AU - David Arnold, W.

AU - Kissel, John T.

PY - 2014/11/13

Y1 - 2014/11/13

N2 - Spinal muscular atrophy (SMA) includes a diverse group of hereditary disorders of the lower motor neuron. The most common form, accounting for 95% of SMA, is a proximal predominant autosomal recessive disease caused by homozygous loss of the survival motor neuron 1 (SMN1) gene and retention of varying copy number of the SMN2 gene. The combined effects lead to reduced SMN protein levels that are insufficient for normal motor neuron function. SMN-related SMA can be divided into subtypes based on age of onset and maximal motor milestones, and subtype severity correlates with SMN2 gene copy number. Diagnostic confirmation is obtained using genetic testing for homozygous deletion or mutation of the SMN1 gene. Currently treatment is limited to supportive care. Therapeutic development aimed at restoring SMN has been the most successful, and currently gene therapy to replace SMN1 and antisense oligonucleotide therapy to increase SMN production from SMN2 show the most promise.

AB - Spinal muscular atrophy (SMA) includes a diverse group of hereditary disorders of the lower motor neuron. The most common form, accounting for 95% of SMA, is a proximal predominant autosomal recessive disease caused by homozygous loss of the survival motor neuron 1 (SMN1) gene and retention of varying copy number of the SMN2 gene. The combined effects lead to reduced SMN protein levels that are insufficient for normal motor neuron function. SMN-related SMA can be divided into subtypes based on age of onset and maximal motor milestones, and subtype severity correlates with SMN2 gene copy number. Diagnostic confirmation is obtained using genetic testing for homozygous deletion or mutation of the SMN1 gene. Currently treatment is limited to supportive care. Therapeutic development aimed at restoring SMN has been the most successful, and currently gene therapy to replace SMN1 and antisense oligonucleotide therapy to increase SMN production from SMN2 show the most promise.

KW - Antisense oligonucleotide

KW - Gene therapy

KW - Genetic testing

KW - Hypotonic infant

KW - Kugelberg-Welander disease

KW - Motor neuron disease

KW - Spinal muscular atrophy

KW - Werdnig-Hoffmann disease

UR - https://www.scopus.com/pages/publications/84943339095

U2 - 10.1016/B978-0-12-410529-4.00089-9

DO - 10.1016/B978-0-12-410529-4.00089-9

M3 - Chapter

AN - SCOPUS:84943339095

SN - 9780124105492

SP - 1075

EP - 1088

BT - Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

PB - Elsevier Inc.

ER -

Spinal Muscular Atrophy

Abstract

Keywords

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