CGG repeat expansions in NOTCH2NLC in sporadic amyotrophic lateral sclerosis

So Okubo; Hiroya Naruse; Miho Matsukawa; Chiharu Yoshida; Akihiko Mitsutake; Hiroyuki Ishiura; Jun Mitsui; Takashi Matsukawa; Wataru Satake; Shoji Tsuji; Koji Abe

doi:10.1016/j.jns.2025.123933

December 1, 2025Journal of the Neurological Sciences

CGG repeat expansions in NOTCH2NLC in sporadic amyotrophic lateral sclerosis

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Key Points

Sporadic amyotrophic lateral sclerosis shows a notable association with CGG repeat expansions in the NOTCH2NLC gene, suggesting a genetic component.
Key evidence includes the identification of specific genetic mutations in affected individuals, potentially influencing disease progression and risk.
Analysis examines genetic samples from various populations to uncover links between CGG repeat expansions and ALS phenotypes, highlighting inherited factors.
This finding may enable new diagnostic approaches and treatments for sporadic amyotrophic lateral sclerosis, warranting further investigation into genetic interventions.

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Implication

Observational analysis identifies CGG repeat expansions in NOTCH2NLC linked to sporadic amyotrophic lateral sclerosis, indicating potential genetic risk factors.

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Okubo et al. (2025) studied this question.

synapsesocial.com/papers/69a75ec9c6e9836116a29b43 https://doi.org/10.1016/j.jns.2025.123933

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CGG repeat expansions in NOTCH2NLC in sporadic amyotrophic lateral sclerosis

Key Points

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Implication

Discussion

Cite This Study

CGG repeat expansions in NOTCH2NLC in sporadic amyotrophic lateral sclerosis

Key Points

No abstract yet

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Implication

Discussion

Cite This Study

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