Hereditary Neuronal Intranuclear Inclusion Disease With Autonomic Failure and Cerebellar Degeneration

Zannolli, Raffaella; Gilman, Sid; Rossi, Símone; Volpi, Nila; Bernini, Andrea; Galluzzi, Paolo; Galimberti, Daniela; Pucci, Lucia; D’Ambrosio, Alfonso; Morgese, G; Giannini, Fabio

doi:10.1001/archneur.59.8.1319

Cited by 55 publications

(72 citation statements)

References 43 publications

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“…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).…”

Section: Discussionmentioning

confidence: 68%

“…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). We previously showed that the detection of intranuclear inclusions in dermal cells was a reliable diagnostic test for NIID (16).…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2016

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Neuronal intranuclear inclusion disease (NIID) is an uncommon progressive neurodegenerative disorder. Adult-onset NIID can result in prominent dementia. We herein describe the case of a 74-year-old man who presented with dementia, cerebellar ataxia, neuropathy, and autonomic dysfunction. Diffusion-weighted imaging showed hyperintensity of the corticomedullary junction. Fluid-attenuated inversion recovery images showed frontal-dominant white matter hyperintensity. NIID was diagnosed from the presence of intranuclear inclusions in a skin biopsy sample. Neuropsychological testing revealed memory loss and frontal cognitive dysfunction, especially in relation to language and executive functions. We were therefore able to confirm the association of NIID with cognitive dysfunction.

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Section: Discussionmentioning

confidence: 68%

Section: Introductionmentioning

confidence: 99%

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

et al. 2016

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“…The enteric nervous system is only involved in some patients so gastrointestinal manifestations are not always seen. Most cases are sporadic but familial cases have been reported [Schuffler et al, 1978;Haltia et al, 1984;Kimber et al, 1998;Zannolli et al, 2002]. In 1998, Kimber et al reported monozygotic female twins with neurogenic limb weakness, ataxia, and dysarthria and two adult sons of one of the twins with similar manifestations.…”

Section: Discussionmentioning

confidence: 99%

“…In 1998, Kimber et al reported monozygotic female twins with neurogenic limb weakness, ataxia, and dysarthria and two adult sons of one of the twins with similar manifestations. Intranuclear inclusions typical NIID were found in the Schuffler et al, 1978Roy et al, 1980Mayer et al, 1986Faber et al, 1987Camilleri et al, 1991Barnett et al, 1992Arrindell et al, 1991Zannolli et al, 2002 Suggested inheritance brains and spinal cords of both twins and immunostaining for ubiquitin was positive [Kimber et al, 1998]. The origin and nature of the inclusions seen in NIID and FVN remains unclear and further research is necessary to understand the pathogenesis of this condition.…”

Section: Discussionmentioning

confidence: 99%

“…Histological investigation in one individual demonstrated neuronal eosinophilic intranuclear inclusions. Review of the English language literature demonstrated seven other families with a very similar phenotype, two of which also had neuronal intranuclear inclusions [Schuffler et al, 1978[Schuffler et al, , 1985Roy et al, 1980;Mayer et al, 1986;Faber et al, 1987;Arrindell et al, 1991;Camilleri et al, 1991;Barnett et al, 1992;Zannolli et al, 2002].…”

Section: Introductionmentioning

confidence: 99%

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Familial visceral neuropathy: A defined entity?

Roper

Gibson

McAlindon

et al. 2005

American J of Med Genetics Pt A

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Familial visceral neuropathy (FVN) is a heterogeneous group of disorders due to abnormalities of the myenteric plexus. FVN with neuronal intranuclear inclusions is one particular form of FVN with a variable phenotype that includes achalasia, gastro‐esophageal reflux, intestinal dysmotility and pseudo‐obstruction, dysarthria, peripheral neuropathy and pupillary defects, and the presence of intranuclear inclusions within the neurons of the enteric nervous system. We present a four‐generation family in which 10 individuals (7 of whom have been examined) are affected with FVN. The family was previously reported as familial esophageal achalasia, an autosomal recessive condition (MIM200400). At that time, several individuals in a single sibship were affected and there were no manifestations in either parent. Since that report, two individuals have had affected children and the mother has developed symptoms and has abnormalities on electromyography, thus enabling us to reclassify the family. This family provides further evidence of autosomal dominant inheritance, with marked variation in expression. © 2005 Wiley‐Liss, Inc.

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Thermally induced phase separation in liquid crystalline polymer/polycarbonate blends

Lee¹,

Chan²,

Kamal³

2010

J of Applied Polymer Sci

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Thermally induced phase separation in liquid crystalline polymer (LCP)/polycarbonate (PC) blends was investigated in this study. The LCP used is a main-chain type copolyester comprised of p-hydroxybenoic acid and 6-hydroxy-2-naphthoic acid. Specimens for microscopic observation were prepared by melt blending. The specimens were heated to a preselected temperature, at which they were held for isothermal phase separation. The preselected temperatures used in this study were 265, 290, and 300 C. The LCP contents used were 10, 20, and 50 wt %. These parameters corresponded to different positions on the phase diagram of the blends. The development of the phase-separated morphology in the blends was monitored in real time and space. It was observed that an initial rapid phase separation was followed by the coarsening of the dispersed domains. The blends developed into various types of phase-separated morphology, depending on the concentration and temperature at which phase separation occurred. The following coarsening mechanisms of the phase-separated domains were observed in the late stages of the phase separation in these blends: (i) diffusion and coalescence of the LCPrich droplets; (ii) vanishing of the PC-rich domains following the evaporation-condensation mechanism; and (iii) breakage and shrinkage of the LCP-rich domains.

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Hereditary Neuronal Intranuclear Inclusion Disease With Autonomic Failure and Cerebellar Degeneration

Abstract: Transmission of NIID in 2 generations presenting with autonomic failure and cerebellar ataxia was hereditary.

Cited by 55 publications

References 43 publications

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

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

Familial visceral neuropathy: A defined entity?

Thermally induced phase separation in liquid crystalline polymer/polycarbonate blends

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