Distal axonopathy in an alsin-deficient mouse model

Han Xiang Deng; Hong Zhai; Ronggen Fu; Yong Shi; George H. Gorrie; Yi Yang; Erdong Liu; Mauro C. Dal Canto; Enrico Mugnaini; Teepu Siddique

doi:10.1093/hmg/ddm251

Distal axonopathy in an alsin-deficient mouse model

Han Xiang Deng^*, Hong Zhai, Ronggen Fu, Yong Shi, George H. Gorrie, Yi Yang, Erdong Liu, Mauro C. Dal Canto, Enrico Mugnaini, Teepu Siddique

^*Corresponding author for this work

Neurology

Research output: Contribution to journal › Article › peer-review

42 Scopus citations

Abstract

Mutations in Alsin are associated with chronic juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis and infantile-onset ascending spastic paralysis. The primary pathology and pathogenic mechanism of the disease remain largely unknown. Here we show that alsin-deficient mice have motor impairment and degenerative pathology in the distal corticospinal tracts without apparent motor neuron pathology. Our data suggest that ALS2 is predominantly a distal axonopathy, rather than a neuronopathy in the central nervous system of the mouse model, implying that alsin plays an important role in maintaining the integrity of the corticospinal axons.

Original language	English (US)
Pages (from-to)	2911-2920
Number of pages	10
Journal	Human molecular genetics
Volume	16
Issue number	23
DOIs	https://doi.org/10.1093/hmg/ddm251
State	Published - Dec 1 2007

Funding

The authors acknowledge the support from the National Institutes of Health (NS40308 to H.-X.D., NS050641 and NS046535 to T.S.), Les Turner ALS Foundation, National Organization for Rare Disorders, Vena E. Schaff ALS Research Fund, Harold Post Research Professorship, Herbert and Florence C. Wenske Foundation, Ralph and Marian Falk Medical Research Trust, Abbott Labs Duane and Susan Burnham Professorship and The David C. Asselin MD Memorial Fund (to TS).

ASJC Scopus subject areas

Genetics(clinical)
Genetics
Molecular Biology

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title = "Distal axonopathy in an alsin-deficient mouse model",

abstract = "Mutations in Alsin are associated with chronic juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis and infantile-onset ascending spastic paralysis. The primary pathology and pathogenic mechanism of the disease remain largely unknown. Here we show that alsin-deficient mice have motor impairment and degenerative pathology in the distal corticospinal tracts without apparent motor neuron pathology. Our data suggest that ALS2 is predominantly a distal axonopathy, rather than a neuronopathy in the central nervous system of the mouse model, implying that alsin plays an important role in maintaining the integrity of the corticospinal axons.",

author = "Deng, {Han Xiang} and Hong Zhai and Ronggen Fu and Yong Shi and Gorrie, {George H.} and Yi Yang and Erdong Liu and {Dal Canto}, {Mauro C.} and Enrico Mugnaini and Teepu Siddique",

note = "Funding Information: The authors acknowledge the support from the National Institutes of Health (NS40308 to H.-X.D., NS050641 and NS046535 to T.S.), Les Turner ALS Foundation, National Organization for Rare Disorders, Vena E. Schaff ALS Research Fund, Harold Post Research Professorship, Herbert and Florence C. Wenske Foundation, Ralph and Marian Falk Medical Research Trust, Abbott Labs Duane and Susan Burnham Professorship and The David C. Asselin MD Memorial Fund (to TS).",

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AU - Deng, Han Xiang

AU - Zhai, Hong

AU - Fu, Ronggen

AU - Shi, Yong

AU - Gorrie, George H.

AU - Yang, Yi

AU - Liu, Erdong

AU - Dal Canto, Mauro C.

AU - Mugnaini, Enrico

AU - Siddique, Teepu

N1 - Funding Information: The authors acknowledge the support from the National Institutes of Health (NS40308 to H.-X.D., NS050641 and NS046535 to T.S.), Les Turner ALS Foundation, National Organization for Rare Disorders, Vena E. Schaff ALS Research Fund, Harold Post Research Professorship, Herbert and Florence C. Wenske Foundation, Ralph and Marian Falk Medical Research Trust, Abbott Labs Duane and Susan Burnham Professorship and The David C. Asselin MD Memorial Fund (to TS).

PY - 2007/12/1

Y1 - 2007/12/1

N2 - Mutations in Alsin are associated with chronic juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis and infantile-onset ascending spastic paralysis. The primary pathology and pathogenic mechanism of the disease remain largely unknown. Here we show that alsin-deficient mice have motor impairment and degenerative pathology in the distal corticospinal tracts without apparent motor neuron pathology. Our data suggest that ALS2 is predominantly a distal axonopathy, rather than a neuronopathy in the central nervous system of the mouse model, implying that alsin plays an important role in maintaining the integrity of the corticospinal axons.

AB - Mutations in Alsin are associated with chronic juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis and infantile-onset ascending spastic paralysis. The primary pathology and pathogenic mechanism of the disease remain largely unknown. Here we show that alsin-deficient mice have motor impairment and degenerative pathology in the distal corticospinal tracts without apparent motor neuron pathology. Our data suggest that ALS2 is predominantly a distal axonopathy, rather than a neuronopathy in the central nervous system of the mouse model, implying that alsin plays an important role in maintaining the integrity of the corticospinal axons.

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JF - Human molecular genetics

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ER -

Distal axonopathy in an alsin-deficient mouse model

Abstract

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ASJC Scopus subject areas

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