Heterozygous HTRA1-related Cerebral Small Vessel Disease with Short Stature and Limbs.

Yuta Serizawa, Hiroki Masuda, Hideo Handa, Soko Komura, Manato Yasuda, Atsuhiko Sugiyama, Satoshi Kuwabara

Abstract readCase Reports

In one paragraph

Article in Internal medicine (Tokyo, Japan), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

7 authors.

Yuta SerizawaDepartment of Neurology, Graduate School of Medicine, Chiba University, Japan.

Hiroki MasudaDepartment of Neurology, Graduate School of Medicine, Chiba University, Japan.

Hideo HandaDepartment of Neurology, Graduate School of Medicine, Chiba University, Japan.

Soko KomuraDepartment of Neurology, Graduate School of Medicine, Chiba University, Japan.

Manato YasudaDepartment of Neurology, Graduate School of Medicine, Chiba University, Japan.

Atsuhiko SugiyamaDepartment of Neurology, Graduate School of Medicine, Chiba University, Japan.

Satoshi KuwabaraDepartment of Neurology, Graduate School of Medicine, Chiba University, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Heterozygous HTRA1 gene variants are associated with hereditary cerebral small vessel disease (CSVD). HTRA1 also plays an important role in bone metabolism; however, its association with abnormal bone formation remains unclear. A 51-year-old man with minimal vascular risk factors was hospitalized for acute ischemic stroke, and magnetic resonance imaging demonstrated scattered deep cerebral white matter lesions. Anthropometric measurements revealed short stature and limb length. A genetic analysis revealed a heterozygous missense variant (c.889G>A, p. V297M) in HTRA1. The patient was diagnosed with heterozygous HTRA1-related CSVD. Our case suggests that this HTRA1 variant may contribute to shorter limbs and height.

Indexed as

Body HeightCerebral Small Vessel DiseasesHigh-Temperature Requirement A Serine Peptidase 1HeterozygoteHumansMagnetic Resonance ImagingMaleMiddle AgedMutation, MissenseHigh-Temperature Requirement A Serine Peptidase 1HTRA1 protein, humancerebral infarctiongene polymorphismheterozygotemultiple sclerosisvascular diseases

Identifiers

PMID41062325

DOI10.2169/internalmedicine.6262-25

PMCPMC13265107

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.