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

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

doi:10.1002/mds.29029

Cited by 2 publications

(1 citation statement)

References 34 publications

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“…In vivo MRI brain scans depict the steepest decline in pontine volume throughout the course of the disease, which is related to CAG repeat length, severity of ataxia and time of life (60). Furthermore, significant hypothalamic atrophy has been observed in a recent report (61).…”

Section: Sca Typementioning

confidence: 93%

Visual oculomotor abnormalities and vestibulo‑ocular reflex dynamics in polyglutamine spinocerebellar ataxias (Review)

Peng

Han

et al. 2023

Exp Ther Med

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Spinocerebellar ataxias (SCAs) are a group of autosomal dominant neurodegenerative diseases that are characterized by cerebellar ataxia. The most common types of SCAs are caused by polyglutamine (polyQ)-encoding cytosine-adenine-guanine repeat expansions. Autosomal dominant SCAs share similar pathophysiological mechanisms. The cerebellum plays an important role in the generation and control of eye movement, and neuropathological findings indicate that cerebellar degeneration is commonly present in polyQ-SCAs. As a result, various patterns of oculomotor impairment are present in most SCA subtypes. The present review summarizes the visual oculomotor abnormalities and vestibulo-ocular reflex dynamics of the most common polyQ-SCAs, as well as their genetic, clinical and neuropathological features. In conclusion, the systemic evaluation of eye movement features is useful in the differential diagnosis of polyQ-SCAs. Contents1. Introduction 2. SCA type 1 3. SCA type 2 4. SCA type 3 5. SCA type 6 6. SCA type 7 7. SCA type 17 8. Conclusions

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Section: Sca Typementioning

confidence: 93%

Visual oculomotor abnormalities and vestibulo‑ocular reflex dynamics in polyglutamine spinocerebellar ataxias (Review)

Peng

Han

et al. 2023

Exp Ther Med

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Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study

Ye,

Chen,

et al. 2024

Preprint

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Background: Spinocerebellar ataxia type 3 (SCA3) is a hereditary polyglutamine disease, caused by abnormally expanded cytosine–adenine–guanine (CAG) repeats in ATXN3 gene. It is classically characterized by cerebellar and spinal cord atrophy and presents with progressive ataxia. we here investigated the associations between expanded CAG repeat size, brain and spinal cord volume loss, and motor functions in SCA3. Methods: In this prospective cross-observational study, we analyzed 3D T1-weighted MRIs from 92 patients with SCA3 and 42 healthy controls using voxel-based morphometry and region of interest approaches. Associations between CAG repeat size, brain and spinal cord volume loss, and International Cooperative Ataxia Rating Scale (ICARS) score were investigated using partial correlation and mediation analyses. Sample sizes of potential markers were calculated. Results:Compared with healthy controls, SCA3 patients had lower cerebellar volume and cervical spinal cord area. SCA3 patients evolved along a stage-independent decline that began in the cerebellum, progressed to spinal cord, brainstem, thalami, and basal ganglia, and extensive subcortex. CAG repeat size was associated with right cerebellar lobule IV volume (r = -0.423, P < 0.001) and cervical spinal cord area (r = -0.405, P < 0.001), and higher ICARS (r = 0.416, P < 0.001). Mediation analysis revealed an indirect effect of CAG repeat size on ICARS through spinal cord. Sample sizes estimation revealed that a minimum sample size was achieved with spinal cordmeasures. Conclusions: CAG repeat size influenced cerebellar lobule IV and cervical spinal cord volume loss. Our results indicated the potential of cervical spinal cord area as a marker for disease progression and sample size estimations in future SCA3 clinical studies.

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

Cited by 2 publications

References 34 publications

Visual oculomotor abnormalities and vestibulo‑ocular reflex dynamics in polyglutamine spinocerebellar ataxias (Review)

Visual oculomotor abnormalities and vestibulo‑ocular reflex dynamics in polyglutamine spinocerebellar ataxias (Review)

Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study

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