Neuropediatrics 2019; 50(06): 391-394
DOI: 10.1055/s-0039-1694973
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria

Masashi Ogasawara
1   Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan
,
1   Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan
,
Eriko Koshimizu
2   Department of Human Genetics, Yokohama City University, Yokohama, Japan
,
Noriyuki Akasaka
3   Niigata Prefecture Hamagumi Medical Rehabilitation Center for Disabled Children, Niigata, Japan
,
Masayuki Sasaki
1   Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan
› Author Affiliations
Further Information

Publication History

19 January 2019

11 June 2019

Publication Date:
04 September 2019 (online)

Abstract

The complication of anarthria in hereditary spastic paraplegia (HSP) patients has been reported to result from mutations in either ALS2 or FA2H. Here, we present a case of a 12-year-old boy with hereditary spastic paralysis and anarthria associated with a SPAST mutation. Initial presentation was at 14 months of age, when the patient experienced leg stiffness. At 3 years of age, he could speak well using sentences. At 9 years of age, he was found to have dysarthria and had difficulty writing. At 12 years of age, the ability to speak was lost. The patient could not vocalize any words, despite contraction of his neck and respiratory muscles during attempted vocalization. Additionally, the patient has never walked independently in his life. Considering these symptoms, we diagnosed him as having infantile onset ascending hereditary spastic paralysis (IAHSP) complicated with anarthria. By whole-exome sequencing, we discovered a heterozygous SPAST mutation c.1496G > A (p.Arg499His), which was not found in the parents and is probably de novo. This mutation was already repeatedly described with similar phenotype. Our results suggest that the p.Arg499His mutation in SPAST should be considered as a differential diagnosis in IAHSP.

Author Contribution

M.O., T.S., N.A., and M.S. managed the patient, drafted the article, and revised the final version. N.K. contributed to sequence analysis. All authors read and approved the final manuscript.


 
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