MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases

Sugiyama, Atsuhiko; Sato, Noriko; Kimura, Yukio; Maekawa, Tomoko; Enokizono, Mikako; Saito, Yuko; Takahashi, Yūji; Matsuda, Hiroshi; Kuwabara, Satoshi

doi:10.3174/ajnr.a5336

Cited by 72 publications

(45 citation statements)

References 23 publications

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“…MRI results in two of five patients revealed high-intensity signals in the middle cerebellar peduncles and in the paravermal area on FLAIR images and in the corticomedullary junction on DWI, similar to those in patients with NIID ( Fig. 1e-h) [6,12,16].…”

Section: Discussionsupporting

confidence: 67%

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

Ogasawara

Iida²,

Kumutpongpanich

et al. 2020

acta neuropathol commun

128

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Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar muscle weakness and rimmed vacuoles on muscle biopsy. Recently, CGG repeat expansions in the noncoding regions of two genes, LRP12 and GIPC1, have been reported to be causative for OPDM. Furthermore, neuronal intranuclear inclusion disease (NIID) has been recently reported to be caused by CGG repeat expansions in NOTCH2NLC. We aimed to identify and to clinicopathologically characterize patients with OPDM who have CGG repeat expansions in NOTCH2NLC (OPDM_NOTCH2NLC). Note that 211 patients from 201 families, who were clinically or clinicopathologically diagnosed with OPDM or oculopharyngeal muscular dystrophy, were screened for CGG expansions in NOTCH2NLC by repeat primed-PCR. Clinical information and muscle pathology slides of identified patients with OPDM_NOTCH2NLC were re-reviewed. Intra-myonuclear inclusions were evaluated using immunohistochemistry and electron microscopy (EM). Seven Japanese OPDM patients had CGG repeat expansions in NOTCH2NLC. All seven patients clinically demonstrated ptosis, ophthalmoplegia, dysarthria and muscle weakness; they myopathologically had intra-myonuclear inclusions stained with anti-poly-ubiquitinated proteins, anti-SUMO1 and anti-p62 antibodies, which were diagnostic of NIID (typically on skin biopsy), in addition to rimmed vacuoles. The sample for EM was available only from one patient, which demonstrated intranuclear inclusions of 12.6 ± 1.6 nm in diameter. We identified seven patients with OPDM_NOTCH2NLC. Our patients had various additional central and/or peripheral nervous system involvement, although all were clinicopathologically compatible; thus, they were diagnosed as having OPDM and expanding a phenotype of the neuromyodegenerative disease caused by CGG repeat expansions in NOTCH2NLC.

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Section: Discussionsupporting

confidence: 67%

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

Ogasawara

Iida²,

Kumutpongpanich

et al. 2020

acta neuropathol commun

128

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“…Therefore, it should be considered that NIID patients may not produce apparent DWI abnormalities, depending on the timing of imaging. It was reported that cerebellar abnormalities, including high-signal intensity on FLAIR in the cerebellar hemisphere besides the vermis, are specific findings in NIID [ 10 ]. This cerebellar abnormality was confirmed in our case even when there were no DWI abnormalities, which indicates that abnormal cerebellar findings on FLAIR may be effective for diagnosing NIID, regardless of the absence of DWI abnormalities.…”

Section: Discussionmentioning

confidence: 99%

A case of neuronal intranuclear inclusion disease with recurrent vomiting and without apparent DWI abnormality for the first seven years

Okamura

Takahashi

Abé

et al. 2020

Heliyon

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Neuronal intranuclear inclusion disease (NIID) is a rare, neurodegenerative disorder characterized by the presence of eosinophilic hyaline intranuclear inclusions, which are ubiquitin-positive and p62-positive, in neuronal and somatic cells; this can be observed on skin biopsy. Although patients with NIID present with a variety of symptoms that often make the diagnosis difficult, characteristic high-signal intensity of the corticomedullary junction on diffusion-weighted imaging (DWI) often provides a clue to the diagnosis of NIID. We present a case of NIID in a 57-year-old woman who only had recurrent vomiting for four years, which is uncommon as the presenting symptom; moreover, DWI showed no apparent abnormality until a slightly abnormal intensity lesion appeared at the right frontal corticomedullary junction seven years after the first episode of recurrent vomiting. Skin biopsies revealed multiple p62-positive nuclear inclusions, and genetic test showed GGC repeat expansion in NOTCH2NLC ; 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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“…Previous researches have indicated that the continuous linear DWI high-intensity signal which rarely extended into the deep white matter is a characteristic feature for diagnosis. [7] Abnormal hyperintense signal firstly appeared in the frontal lobe, then spread to the parietal and occipital lobe. The signal distributed symmetrically along the corticomedullary junction, related with spongiotic changes in white matter proximal to the U-fibers.…”

Section: Discussionmentioning

confidence: 99%

A long time radiological follow-up of neuronal intranuclear inclusion disease

Chen

et al. 2018

Medicine

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Rationale:Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease identified with diffusion-weighted imaging (DWI) high-intensity signal in magnetic resonance imaging (MRI). The disappearance of the abnormal signal is extremely rare.Patient concerns:We present the 2 cases of patients, both of them were suffering from heterogeneous symptoms. We followed up one of them for 7 years with MRI, the other accepted comprehensive MRI inspections.Diagnoses:DWI high-intensity signal were observed along the corticomedullary junction in MRI plan scan of heads of 2 patients. For patient 1, the hyperintensities in DWI and fluid-attenuated inversion recovery (FLAIR) images in the occipital lobe disappeared 5 years after onset. Based on the biopsy, patient 1 and 2 were diagnosed as NIID.Interventions:There have not effective medication and prevention for NIID. Patient 1 and 2 received symptomatic treatment.Outcomes:Up until now, the patients are alive but the disease is progressing.Lessons:DWI high-intensity signal is a strong clue for the diagnosis of NIID, but the rare case of the disappearance of it may lead to misdiagnosis.

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MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases

Cited by 72 publications

References 23 publications

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

A case of neuronal intranuclear inclusion disease with recurrent vomiting and without apparent DWI abnormality for the first seven years

A long time radiological follow-up of neuronal intranuclear inclusion disease

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