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Article

First case of compound heterozygosity in <i>ALS2 </i>gene in infantile‐onset ascending spastic paralysis with bulbar involvement

7 May 2008

Abstract excerpt

To the Editor: Homozygous mutations in the ALS2 gene are causative for autosomal recessive, early-onset forms of upper motor neuron (UMN) diseases described as infantile-onset ascending hereditary spastic paralysis (IAHSP) and juvenile primary lateral sclerosis (JPLS) with overlapping phenotypes (1–7). They are also rarely associated with lower motor neuron (LMN) involvement in juvenile ALS, ALS2 (1, 2, 8). The...

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Identifiers

PMID: 18394004
DOI: 10.1111/j.1399-0004.2008.00993.x

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