CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations

Tomohiko Nakamura; Hirohisa Watanabe; Masaaki Hirayama; Akira Inukai; Hidehiro Kabasawa; Michitaka Matsubara; Shigehisa Mitake; Masaaki Nakamura; Yukio Ando; Makoto Uchino; Gen Sobue

doi:10.1016/j.jns.2005.07.001

CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations

Tomohiko Nakamura, Hirohisa Watanabe, Masaaki Hirayama, Akira Inukai, Hidehiro Kabasawa, Michitaka Matsubara, Shigehisa Mitake, Masaaki Nakamura, Yukio Ando, Makoto Uchino, Gen Sobue

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

10 Citations (Scopus)

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease leading to strokes and vascular dementia. The average age of onset for stroke is 45 years with a range of about 30 to 70 years. We describe a Japanese CADASIL family showing S180C in the exon 4 of NOTCH3, presenting an anticipation of the onset age for stroke. MRI demonstrated a similar extent of white matter involvement in younger and older individuals, supporting the presence of anticipation. In addition, hallucinations in 71% of affected patients, and delusions in 57% were also described. Our findings in this family suggest that a specific NOTCH3 mutation was related to unique clinical features, although such correlations have seldom been encountered in CADASIL.

Original language	English
Pages (from-to)	87-91
Number of pages	5
Journal	Journal of the Neurological Sciences
Volume	238
Issue number	1-2
DOIs	https://doi.org/10.1016/j.jns.2005.07.001
Publication status	Published - 15-11-2005
Externally published	Yes

All Science Journal Classification (ASJC) codes

Neurology
Clinical Neurology

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10.1016/j.jns.2005.07.001

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title = "CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations",

abstract = "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease leading to strokes and vascular dementia. The average age of onset for stroke is 45 years with a range of about 30 to 70 years. We describe a Japanese CADASIL family showing S180C in the exon 4 of NOTCH3, presenting an anticipation of the onset age for stroke. MRI demonstrated a similar extent of white matter involvement in younger and older individuals, supporting the presence of anticipation. In addition, hallucinations in 71% of affected patients, and delusions in 57% were also described. Our findings in this family suggest that a specific NOTCH3 mutation was related to unique clinical features, although such correlations have seldom been encountered in CADASIL.",

author = "Tomohiko Nakamura and Hirohisa Watanabe and Masaaki Hirayama and Akira Inukai and Hidehiro Kabasawa and Michitaka Matsubara and Shigehisa Mitake and Masaaki Nakamura and Yukio Ando and Makoto Uchino and Gen Sobue",

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doi = "10.1016/j.jns.2005.07.001",

language = "English",

volume = "238",

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journal = "Journal of the Neurological Sciences",

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TY - JOUR

T1 - CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations

AU - Nakamura, Tomohiko

AU - Watanabe, Hirohisa

AU - Hirayama, Masaaki

AU - Inukai, Akira

AU - Kabasawa, Hidehiro

AU - Matsubara, Michitaka

AU - Mitake, Shigehisa

AU - Nakamura, Masaaki

AU - Ando, Yukio

AU - Uchino, Makoto

AU - Sobue, Gen

PY - 2005/11/15

Y1 - 2005/11/15

N2 - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease leading to strokes and vascular dementia. The average age of onset for stroke is 45 years with a range of about 30 to 70 years. We describe a Japanese CADASIL family showing S180C in the exon 4 of NOTCH3, presenting an anticipation of the onset age for stroke. MRI demonstrated a similar extent of white matter involvement in younger and older individuals, supporting the presence of anticipation. In addition, hallucinations in 71% of affected patients, and delusions in 57% were also described. Our findings in this family suggest that a specific NOTCH3 mutation was related to unique clinical features, although such correlations have seldom been encountered in CADASIL.

AB - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease leading to strokes and vascular dementia. The average age of onset for stroke is 45 years with a range of about 30 to 70 years. We describe a Japanese CADASIL family showing S180C in the exon 4 of NOTCH3, presenting an anticipation of the onset age for stroke. MRI demonstrated a similar extent of white matter involvement in younger and older individuals, supporting the presence of anticipation. In addition, hallucinations in 71% of affected patients, and delusions in 57% were also described. Our findings in this family suggest that a specific NOTCH3 mutation was related to unique clinical features, although such correlations have seldom been encountered in CADASIL.

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JO - Journal of the Neurological Sciences

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IS - 1-2

ER -

CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations

Abstract

All Science Journal Classification (ASJC) codes

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