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November 9, 2022Frontiers in NeurologyOpen Access

Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variability

Jae‐Hwan Choi Hyun Sung Kim Eun Hye Oh Jae‐Hyeok Lee Chong Kun Cheon

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Abstract

We report a cerebello-dominant form of X-ALD caused by a missense variant in ABCD1. This report highlights intrafamilial phenotypic variability in X-ALD.

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Choi et al. (2022) studied this question.

synapsesocial.com/papers/69eee07cb65c86b636038012 https://doi.org/10.3389/fneur.2022.999419

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