The underlying causes of eye movement disorders and ataxia

This case report describes a 54-year-old Chinese woman with progressive gait instability, speech slowing, and cerebellar ataxia. Initial symptoms included mild bradykinesia and frequent backward falls. Neurological evaluation revealed supranuclear gaze palsy, hyporeflexia, and cerebellar dysfunction (SARA 26/40). Differential diagnoses included MSA, SCA, and PD. Genetic testing excluded SCA, while advanced imaging ruled out other disorders. The patient met criteria for probable PSP-C, a rare PSP subtype marked by cerebellar ataxia. [<sup>18</sup>F]PM-PBB3 tau PET imaging demonstrated abnormal tau accumulation in the striatum, thalamus, midbrain, and pons, consistent with PSP-C neuropathology. This case underscores the diagnostic utility of tau PET in distinguishing PSP-C from overlapping conditions and provides novel imaging evidence in an Asian cohort. Findings highlight the potential of noninvasive tau-targeted imaging for early detection and management of PSP-C.

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Publication Details

Journal
Neurodegenerative Disease Management
Published
2025-10-31
DOI
https://doi.org/10.1080/17582024.2025.2578963
Primary Topic
Genetic Neurodegenerative Diseases
Type
article
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article

The underlying causes of eye movement disorders and ataxia

Cheng‐Hsien Lu, Wenming Yang, Yishan Qian, Taohua Wei et al.
Neurodegenerative Disease Management
Genetic Neurodegenerative Diseases
article

The underlying causes of eye movement disorders and ataxia

Cheng‐Hsien Lu, Wenming Yang, Yishan Qian, Taohua Wei, Nannan Qian
article en

Abstract

This case report describes a 54-year-old Chinese woman with progressive gait instability, speech slowing, and cerebellar ataxia. Initial symptoms included mild bradykinesia and frequent backward falls. Neurological evaluation revealed supranuclear gaze palsy, hyporeflexia, and cerebellar dysfunction (SARA 26/40). Differential diagnoses included MSA, SCA, and PD. Genetic testing excluded SCA, while advanced imaging ruled out other disorders. The patient met criteria for probable PSP-C, a rare PSP subtype marked by cerebellar ataxia. [<sup>18</sup>F]PM-PBB3 tau PET imaging demonstrated abnormal tau accumulation in the striatum, thalamus, midbrain, and pons, consistent with PSP-C neuropathology. This case underscores the diagnostic utility of tau PET in distinguishing PSP-C from overlapping conditions and provides novel imaging evidence in an Asian cohort. Findings highlight the potential of noninvasive tau-targeted imaging for early detection and management of PSP-C.

Neurodegenerative Disease Management
Anhui Medical University (CN), Anhui University of Traditional Chinese Medicine (CN)
Openalex Percentile: Top 65%
Genetic Neurodegenerative Diseases
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