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Neuronal intranuclear inclusion disease (NIID) is a heterogeneous neurodegenerative disease with multiple clinical subtypes. Recent breakthroughs on neuroimaging, skin biopsy and genetic testing have facilitated the diagnosis. We aim to investigate the clinical characteristics of Chinese NIID patients to further refine the spectrum. We analyzed the clinical features of 25 NIID patients from 24 unrelated families and performed skin biopsy and/or sural nerve biopsy on 24 probands. Repeat-primed PCR and fluorescence amplicon length PCR were conducted to detect GGC repeats of NOTCH2NLC. Onset age ranged from 24 to 72 years old, and the disease duration ranged from 12 h to 25 years with the mode of onset characterized as acute, recurrent or chronic progressive type. Tremor was a common phenotype, often observed in the early stages, next to dementia and paroxysmal encephalopathy. Symptoms infrequently reported such as oromandibular dystonia, recurrent vomiting, dizziness and headache of unknown origin, as well as pure peripheral neuropathy were also suggestive of NIID. Reversible leukoencephalopathy following encephalitic episodes and the absence of apparent DWI abnormality were noticed. Two genetically confirmed NIID patients failed to be identified intranuclear inclusions, and one patient was simultaneously found significant mitochondrial swelling and fingerprint profiles depositing in lysosomes. All the patients were identified abnormal GGC repeats of NOTCH2NLC. We identify some atypical clinicopathological features and consider that pathological examinations combined with genetic testing is the gold standard for diagnosis. Whether lysosomal and mitochondrial dysfunction is involved in the pathogenesis of NIID deserves further study.

Controlling the Dirac point voltage of graphene is essential for realizing various practical applications of graphene. Here, control of the doping state is achieved in flexible graphene field effect transistors (GFETs) by applying mechanical bending stress. By gradually increasing the bending strain (the decrease of upward/downward bending radius), the Dirac point (VDirac) linearly shifts to left/right, which is induced by the flexoelectric effect of the ferroelectric Pb0.92La0.08Zr0.52Ti0.48O3(PLZT) gate. In addition, a superior mechanical antifatigue character is obtained in the flexible GFETs, and the doping effect is recoverable. The sensitivity to strain and high bending stability not only offer an easy, controllable and nonintrusive method to obtain a specific doping level in graphene for flexible electric devices, but also highlight the enormous potential of the flexible ferroelectric PLZT-gated GFETs as wearable sensors.