Heliyon · 2020 · 32 citations · 7 references
MedicineNeurologyPathologyDiagnostic ImagingNeurodegenerationNeuropathologyNeurodegenerative Disease ImagingNeurodegenerative DiseasesNeurodegenerative DisordersNeurogenetic DisordersNeurologic ImagingClinical SymptomsDiffusion-weighted ContrastMicroscopic Neuropathologic ExaminationNeuroimaging Of Cranial NeuropathiesNeuronal Intranuclear InclusionsSkin Biopsy DiagnosticsVomiting Episode
; this may form the genetic basis for NIID. Retrospectively, we found that abnormal cerebellar signals besides the vermis in the fluid attenuation inversion recovery (FLAIR) images were detected early-on in the disease. Periodic vomiting may be the only symptom of NIID in the early stages of the disease, and cerebellar abnormalities in FLAIR may serve as an important finding in the diagnosis of NIID, even in the absence of characteristic clinical symptoms or abnormal DWI signals at the cerebral corticomedullary junction.
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Clinicopathological features of adult-onset neuronal intranuclear inclusion disease
Jun Sone, Keiko Mori, Tomonori Inagaki et al. · Brain · 2016 · 408 citations · Full text
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Jun Sone, Fumiaki Tanaka, Haruki Koike et al. · Neurology · 2011 · 220 citations
GGC Repeat Expansion of <i>NOTCH2NLC</i> in Adult Patients with Leukoencephalopathy
Masaki Okubo, Hiroshi Doi, Ryoko Fukai et al. · Annals of Neurology · 2019 · 120 citations