Patients and clinical examination

One male patient proven to harbor different GRN mutations and initially suffering from cognitive impairment was recruited from the Department of Neurology, Zhujiang Hospital of Southern Medical University. He received detailed clinical examinations that were performed by two neurologists (one was a movement disorder specialist); several clinical scales were used to examine disease status(Table 2), including standardized ratings of disease severity using the modified Hoehn and Yahr (H&Y) staging scale, the Non- Motor Symptoms Scale for Parkinson’s Disease (NMSS), the Mini Mental State Examination (MMSE), the Unified Parkinson Disease Rating Scale (UPDRS), and the Montreal Cognitive Assessment (MoCA). The details of his clinical manifestations and cranial encephalography (EEG) were collected (Table 2). This study was approved by the ethics committees of the Zhujiang Hospital of Southern Medical University (2020- KY-018-02). Informed consent was obtained from the participant according to the Research Ethics Boards.

Summary of clinical manifestations and auxiliary examinations of the patient with GRN mutations.

Aβ: amyloid β protein; H&Y: the modified Hoehn and Yahr staging scale t-Tau: total Tau protein; p-Tau: phosphorylated Tau protein; FTD: frontotemporal dementia; CSF: cerebrospinal fluid; EEG: electroencephalogram; GRN: progranulin; MMSE: Mini-Mental State Examination; MND: Motor Neuron Disease; MoCA: Montreal Cognitive Assessment; MRI: magnetic resonance imaging; NMSS: Non-Motor Symptoms Scale for Parkinson’s Disease; OCT: optical coherence tomography; PET/CT: positron emission computed tomography/computed tomography; UPDRS: The unified Parkinson’ Disease Rating Scale.