An Unusual Degenerative Disorder of Neurons Associated with a Novel Intranuclear Hyaline Inclusion (Neuronal Intranuclear Hyaline Inclusion Disease)

Neuronal intranuclear inclusion disease in identical twins

“…The postmortem finding of widespread NII bodies, associated with neuronal degeneration and destruction in both the central and peripheral nervous systems, provided a reasonable explanation for the perplexing clinical symptoms of our patients and indicated a possible relationship with four cases reported earlier C6, 7,10,17). A comparison of the reported clinical features of those and our cases shows remarkable similarities (Table 2) In our patients and in the four previously reported cases, a similar widespread distribution of the NII bodies was observed, although the intensity and site of the associated neuronal degeneration and loss varied.…”

“…The first patient, a 45-year-old man, was interpreted as having an atypical form of Friedreich's ataxia 16). The second patient was a 21-year-old woman with clinical arid morphological evidence of involvement of both central and peripheral neurons, including those of the autonomic nervous system [17]. Similar neuronal intranuclear acidophilic inclusions were described in a patient with atypical juvenile parkinsonism {7], as well as in a patient with juvenile multiple system atrophy { 10).…”

Memory Loss and Frontal Cognitive Dysfunction in a Patient with Adult-onset Neuronal Intranuclear Inclusion Disease

“…Pathologically, the localization of inclusions differs between NIID and polyQ diseases; in NIID there are neuronal and glial intranuclear inclusions, whereas in polyQ diseases there are neuronal and glial inclusions as well as both intranuclear and cytoplasmic inclusions (1-15, 23, 24). The intranuclear inclusions in NIID are distributed in the neurons of the brain, spinal cord, dorsal root, sympathetic ganglia, and peripheral nerves (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)15). In contrast, polyQ diseases show neuronal degeneration with nuclear inclusions specifically in the brainstem and cerebellar efferent pathways, consistent with the clinical features (15).…”

“…In contrast, polyQ diseases show neuronal degeneration with nuclear inclusions specifically in the brainstem and cerebellar efferent pathways, consistent with the clinical features (15). Clinically, depending on the age of onset and the clinical phenotype, the differential diagnoses in polyQ diseases can include DRPLA (24), whereas signs of ataxia in DRPLA are more dominant than those in NIID (24), NIID exhibits multi-systemic degeneration involving the central, peripheral, and autonomic nervous systems (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)15). In terms of higher brain dysfunction, the frontal lobe dysfunction in our NIID patient may be similar to those of vascular dementia rather than the recent and episodic memory loss characterized in Alzheimer's disease, the most common form of dementia (25).…”

“…Neuronal intranuclear inclusion disease (NIID) is an uncommon progressive neurodegenerative disorder characterized by eosinophilic hyaline intranuclear inclusions in nearly all types of central, peripheral, and autonomic neurons (1). NIID is clinically heterogeneous and may cause symptoms such as cerebellar ataxia, dementia, pyramidal and extrapyramidal signs, generalized convulsion, isolated resting tremor, and autonomic dysfunction (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18).…”