Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: A case report

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

“…The electron microscopic findings of Marinesco bodies, however, show aggregation of finely granular materials and a filamentous lattice-like structure (Leestma and Andrews, 1969; Okamoto and Hirai, 1981), which is different to those of NIID cases in this study and previous reports (Lindenberg et al , 1968; Takahashi-Fujigasaki, 2003). We therefore consider that the nature of Marinesco bodies differs from intranuclear inclusion of NIID as previously reported (Janota, 1979; Sung, 1980; Oyer et al , 1991). …”

“…Since then, many NIID cases have been reported after post-mortem examination (Schuffler et al , 1978; Michaud and Gilbert, 1981; Patel et al , 1985; Munoz-Garcia and Ludwin, 1986; Oyer et al , 1991; Weidenheim and Dickson, 1995; Takahashi-Fujigasaki, 2003; Liu et al , 2008). The onset of disease varies from infancy to the sixties, but two-thirds of them were infantile or juvenile cases (Funata et al , 1990; Zannolli et al , 2002; Takahashi-Fujigasaki, 2003).…”

Neuronal intranuclear hyaline inclusion disease

“…Neuronal intranuclear hyaline inclusion disease (NIHID) is a rare neurodegenerative disorder characterized pathologically by the presence of eosinophilic intranuclear inclusions in neuronal cells 1 . It has been considered to be a heterogeneous disease entity because the clinical fea‐tures and pathological findings in patients are extremely varied 1–24 . It is generally seen in children with slowly progressive clinical symptoms resembling multiple‐system degeneration 1–13 .…”

“…The majority of cases are sporadic although several familial cases, including identical twins, have been described 12,14,16–18,22–24 . In the previous reports, other terms, ‘neuronal intranuclear inclusion disease’ (NIID) 3,8 , 11,12 , 17 or ‘intranuclear inclusion body disease’ (INIBD) 20 are also used to refer to the same disease entity.…”

Neuronal intranuclear inclusion disease: Report on a case originally diagnosed as dopa‐responsive dystonia with Lewy bodies

“…The first pathological description of NIID may have been made as early as 1968 1. It presents in the first two decades of life as a multisystem degeneration with pyramidal, extrapyramidal, and cerebellar signs, and behavioral and cognitive disturbances may also be present 2–21. Extrapyramidal features occasionally dominate the clinical picture although juvenile parkinsonism (JP) fulfilling the Queen Square Brain Bank (QSBB) diagnostic criteria for Parkinson's disease (PD)22 has only been reported in one patient 23.…”