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HTRA1-related cerebral small-vessel disease causes cerebral microbleeds on the brainstem surface.
Kobayashi, Yuya; Kondo, Yasufumi; Tazawa, Ko-Ichi; Yamamoto, Kanji; Tsuneaki, Yoshinaga; Nakamura, Katsuya; Sekijima, Yoshiki.
Afiliación
  • Kobayashi Y; Department of Neurology, Nagano Municipal Hospital, 1333-1 Tomitake, Nagano 381-8551, Japan; Department of Neurology, Ina Central Hospital, 1313-1, Ina, Nagano 396-8555, Japan. Electronic address: juriruri@shinshu-u.ac.jp.
  • Kondo Y; Department of Neurology, Nagano Municipal Hospital, 1333-1 Tomitake, Nagano 381-8551, Japan.
  • Tazawa KI; Department of Neurology, Nagano Red Cross Hospital, 5-22-1, Wakasato, Nagano 380-8582, Japan.
  • Yamamoto K; Department of Neurology, Ina Central Hospital, 1313-1, Ina, Nagano 396-8555, Japan.
  • Tsuneaki Y; Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.
  • Nakamura K; Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.
  • Sekijima Y; Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.
J Neurol Sci ; 466: 123229, 2024 Sep 12.
Article en En | MEDLINE | ID: mdl-39270409
ABSTRACT
BACKGROUND AND

OBJECTIVES:

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) has recently been known as HTRA1-related cerebral small-vessel disease (CSVD), it is caused by variants in HTRA1. Recently, it has been reported to develop in heterozygotes with some variants of the gene. Multiple prospective studies have reported that the frequency of heterozygous HTRA1 variants developing CSVD is 2 - 6.5 % in CARASIL. Heterozygous variant cases lack unique clinical features, have an older age of onset, and are difficult to detect. Characteristic findings are required to identify such cases.

METHOD:

Magnetic resonance imaging (MRI) images of cases that experienced cerebral infarction and carried heterozygous variants in HTRA1 were reviewed.

RESULTS:

Four cases of heterozygous HTRA1-related CSVD in two families (Family 1 c.754G > A, p.A252T; three males. Family 2 c.497G > T, p.R166L, one female). In all cases, white matter lesions with lacunar infarcts were observed in the periventricular and basal ganglia, external capsule, and brainstem. Moreover, T2 star weighted image (T2*WI) low presented dot-like lesions were present along the surface of the brainstem, which have only been reported in one homozygous case. Susceptibility-weighted imaging (SWI) was performed in two cases, and the dot-like lesions on T2*WI resembled a pearly tiara along the surface of the brainstem.

CONCLUSION:

Brainstem surface on T2*WI low showed dot-like lesions, which are not generally observed in patients with stroke and can be characteristic of HTRA1-CSVD associated with heterozygous variant. The pathology requires further investigation for diagnosis.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Neurol Sci Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Neurol Sci Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos