Hypothalamic Atrophy, Expanded CAG Repeat, and Low Body Mass Index in Spinocerebellar Ataxia Type 3

Jing Guo; Zhouyu Jiang; Bharat B. Biswal; Bo Zhou; Dongjing Xie; Qing Gao; Wei Sheng; Hui Chen; Yuhan Zhang; Yunshuang Fan; Jian Wang; Chen Liu; Huafu Chen

doi:10.1002/mds.29029

Hypothalamic Atrophy, Expanded CAG Repeat, and Low Body Mass Index in Spinocerebellar Ataxia Type 3

Jing Guo, Zhouyu Jiang, Bharat B. Biswal, Bo Zhou, Dongjing Xie, Qing Gao, Wei Sheng, Hui Chen, Yuhan Zhang, Yunshuang Fan, Jian Wang, Chen Liu, Huafu Chen

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

Abstract

Background: Spinocerebellar ataxia type 3 (SCA3) is an inherited motor disorder that is characterized by low body mass index (BMI). Considering the role of the hypothalamus in regulating appetitive behaviors and metabolism, low BMI may result from hypothalamic degeneration. Objectives: To examine hypothalamic volume changes in SCA3 by comparing patients and matched healthy controls and to identify potential mediating effects of hypothalamic pathology on CAG repeats for BMI. Methods: Magnetic resonance imaging datasets of hypothalamic volumes from 41 SCA3 patients and 49 matched controls were analyzed. Relationships among CAG repeat number, hypothalamic volumes, and BMI were assessed using correlation and mediation analyses. Results: SCA3 patients exhibited significant hypothalamic atrophy. Tubular hypothalamic volume was significantly associated with BMI. Mediation analysis revealed an indirect effect of CAG repeat number on BMI via tubular hypothalamic atrophy. Conclusions: Low BMI in SCA3 is related to neurodegeneration within the tubular hypothalamus, providing a potential target for energy-based treatment.

Original language	English (US)
Pages (from-to)	1541-1546
Number of pages	6
Journal	Movement Disorders
Volume	37
Issue number	7
DOIs	https://doi.org/10.1002/mds.29029
State	Published - Jul 2022

All Science Journal Classification (ASJC) codes

Neurology
Clinical Neurology

Keywords

spinocerebellar ataxia type 3; hypothalamus; body mass index; CAG repeat expansion

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10.1002/mds.29029

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title = "Hypothalamic Atrophy, Expanded CAG Repeat, and Low Body Mass Index in Spinocerebellar Ataxia Type 3",

abstract = "Background: Spinocerebellar ataxia type 3 (SCA3) is an inherited motor disorder that is characterized by low body mass index (BMI). Considering the role of the hypothalamus in regulating appetitive behaviors and metabolism, low BMI may result from hypothalamic degeneration. Objectives: To examine hypothalamic volume changes in SCA3 by comparing patients and matched healthy controls and to identify potential mediating effects of hypothalamic pathology on CAG repeats for BMI. Methods: Magnetic resonance imaging datasets of hypothalamic volumes from 41 SCA3 patients and 49 matched controls were analyzed. Relationships among CAG repeat number, hypothalamic volumes, and BMI were assessed using correlation and mediation analyses. Results: SCA3 patients exhibited significant hypothalamic atrophy. Tubular hypothalamic volume was significantly associated with BMI. Mediation analysis revealed an indirect effect of CAG repeat number on BMI via tubular hypothalamic atrophy. Conclusions: Low BMI in SCA3 is related to neurodegeneration within the tubular hypothalamus, providing a potential target for energy-based treatment.",

keywords = "spinocerebellar ataxia type 3; hypothalamus; body mass index; CAG repeat expansion",

author = "Jing Guo and Zhouyu Jiang and Biswal, {Bharat B.} and Bo Zhou and Dongjing Xie and Qing Gao and Wei Sheng and Hui Chen and Yuhan Zhang and Yunshuang Fan and Jian Wang and Chen Liu and Huafu Chen",

note = "Publisher Copyright: {\textcopyright} 2022 International Parkinson and Movement Disorder Society.",

year = "2022",

month = jul,

doi = "10.1002/mds.29029",

language = "English (US)",

volume = "37",

pages = "1541--1546",

journal = "Movement Disorders",

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TY - JOUR

T1 - Hypothalamic Atrophy, Expanded CAG Repeat, and Low Body Mass Index in Spinocerebellar Ataxia Type 3

AU - Guo, Jing

AU - Jiang, Zhouyu

AU - Biswal, Bharat B.

AU - Zhou, Bo

AU - Xie, Dongjing

AU - Gao, Qing

AU - Sheng, Wei

AU - Chen, Hui

AU - Zhang, Yuhan

AU - Fan, Yunshuang

AU - Wang, Jian

AU - Liu, Chen

AU - Chen, Huafu

PY - 2022/7

Y1 - 2022/7

N2 - Background: Spinocerebellar ataxia type 3 (SCA3) is an inherited motor disorder that is characterized by low body mass index (BMI). Considering the role of the hypothalamus in regulating appetitive behaviors and metabolism, low BMI may result from hypothalamic degeneration. Objectives: To examine hypothalamic volume changes in SCA3 by comparing patients and matched healthy controls and to identify potential mediating effects of hypothalamic pathology on CAG repeats for BMI. Methods: Magnetic resonance imaging datasets of hypothalamic volumes from 41 SCA3 patients and 49 matched controls were analyzed. Relationships among CAG repeat number, hypothalamic volumes, and BMI were assessed using correlation and mediation analyses. Results: SCA3 patients exhibited significant hypothalamic atrophy. Tubular hypothalamic volume was significantly associated with BMI. Mediation analysis revealed an indirect effect of CAG repeat number on BMI via tubular hypothalamic atrophy. Conclusions: Low BMI in SCA3 is related to neurodegeneration within the tubular hypothalamus, providing a potential target for energy-based treatment.

AB - Background: Spinocerebellar ataxia type 3 (SCA3) is an inherited motor disorder that is characterized by low body mass index (BMI). Considering the role of the hypothalamus in regulating appetitive behaviors and metabolism, low BMI may result from hypothalamic degeneration. Objectives: To examine hypothalamic volume changes in SCA3 by comparing patients and matched healthy controls and to identify potential mediating effects of hypothalamic pathology on CAG repeats for BMI. Methods: Magnetic resonance imaging datasets of hypothalamic volumes from 41 SCA3 patients and 49 matched controls were analyzed. Relationships among CAG repeat number, hypothalamic volumes, and BMI were assessed using correlation and mediation analyses. Results: SCA3 patients exhibited significant hypothalamic atrophy. Tubular hypothalamic volume was significantly associated with BMI. Mediation analysis revealed an indirect effect of CAG repeat number on BMI via tubular hypothalamic atrophy. Conclusions: Low BMI in SCA3 is related to neurodegeneration within the tubular hypothalamus, providing a potential target for energy-based treatment.

KW - spinocerebellar ataxia type 3; hypothalamus; body mass index; CAG repeat expansion

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DO - 10.1002/mds.29029

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JO - Movement Disorders

JF - Movement Disorders

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ER -

Hypothalamic Atrophy, Expanded CAG Repeat, and Low Body Mass Index in Spinocerebellar Ataxia Type 3

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