Literature DB >> 9804114

Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions.

T E Kimber1, P C Blumbergs, J P Rice, J F Hallpike, R Edis, P D Thompson, G Suthers.   

Abstract

Female monozygotic twins developed upper and lower limb neurogenic weakness in their thirties, followed by cerebellar ataxia, dysarthria and death after an illness duration of about 20 years. Autopsy revealed pathological features typical of neuronal intranuclear inclusion disease (NIID) and positive ubiquitin immunostaining of the inclusions. Two adult sons of one of the twins have now developed an identical illness. This family provides strong evidence of an hereditary form of NIID.

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Year:  1998        PMID: 9804114     DOI: 10.1016/s0022-510x(98)00169-5

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


  14 in total

1.  Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child.

Authors:  Kathryn McFadden; Ronald L Hamilton; Sam J Insalaco; Lawrence Lavine; Majeed Al-Mateen; Guoji Wang; Clayton A Wiley
Journal:  J Neuropathol Exp Neurol       Date:  2005-06       Impact factor: 3.685

2.  Neuronal Intranuclear Inclusion Disease: Longitudinal Case Report of Motor and Nonmotor Symptoms.

Authors:  Jennifer Vermilion; Mahlon Johnson; Jayasri Srinivasan; Jonathan W Mink
Journal:  J Child Neurol       Date:  2019-07-15       Impact factor: 1.987

Review 3.  The fragile-X premutation: a maturing perspective.

Authors:  Paul J Hagerman; Randi J Hagerman
Journal:  Am J Hum Genet       Date:  2004-03-29       Impact factor: 11.025

Review 4.  Prospects for the pharmacotherapy of amyotrophic lateral sclerosis : old strategies and new paradigms for the third millennium.

Authors:  Barry W Festoff; Zhiming Suo; Bruce A Citron
Journal:  CNS Drugs       Date:  2003       Impact factor: 5.749

5.  GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy.

Authors:  Jiaxi Yu; Xing-Hua Luan; Meng Yu; Wei Zhang; He Lv; Li Cao; Lingchao Meng; Min Zhu; Binbin Zhou; Xiao-Rong Wu; Pidong Li; Qiang Gang; Jing Liu; Xin Shi; Wei Liang; Zhirong Jia; Sheng Yao; Yun Yuan; Jianwen Deng; Daojun Hong; Zhaoxia Wang
Journal:  Ann Clin Transl Neurol       Date:  2021-05-04       Impact factor: 4.511

6.  Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.

Authors:  Yun Tian; Jun-Ling Wang; Wen Huang; Sheng Zeng; Bin Jiao; Zhen Liu; Zhao Chen; Yujing Li; Ying Wang; Hao-Xuan Min; Xue-Jing Wang; Yong You; Ru-Xu Zhang; Xiao-Yu Chen; Fang Yi; Ya-Fang Zhou; Hong-Yu Long; Chao-Jun Zhou; Xuan Hou; Jun-Pu Wang; Bin Xie; Fan Liang; Zhuan-Yi Yang; Qi-Ying Sun; Emily G Allen; Andrew Mark Shafik; Ha Eun Kong; Ji-Feng Guo; Xin-Xiang Yan; Zheng-Mao Hu; Kun Xia; Hong Jiang; Hong-Wei Xu; Ran-Hui Duan; Peng Jin; Bei-Sha Tang; Lu Shen
Journal:  Am J Hum Genet       Date:  2019-06-06       Impact factor: 11.025

7.  Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome.

Authors:  Lisa Ma; Anthony W Herren; Glenda Espinal; Jamie Randol; Bridget McLaughlin; Veronica Martinez-Cerdeño; Isaac N Pessah; Randi J Hagerman; Paul J Hagerman
Journal:  Acta Neuropathol Commun       Date:  2019-09-03       Impact factor: 7.801

8.  Neuronal intranuclear inclusion disease is genetically heterogeneous.

Authors:  Zhongbo Chen; Wai Yan Yau; Zane Jaunmuktane; Arianna Tucci; Prasanth Sivakumar; Sarah A Gagliano Taliun; Chris Turner; Stephanie Efthymiou; Kristina Ibáñez; Roisin Sullivan; Farah Bibi; Alkyoni Athanasiou-Fragkouli; Thomas Bourinaris; David Zhang; Tamas Revesz; Tammaryn Lashley; Michael DeTure; Dennis W Dickson; Keith A Josephs; Ellen Gelpi; Gabor G Kovacs; Glenda Halliday; Dominic B Rowe; Ian Blair; Pentti J Tienari; Anu Suomalainen; Nick C Fox; Nicholas W Wood; Andrew J Lees; Matti J Haltia; John Hardy; Mina Ryten; Jana Vandrovcova; Henry Houlden
Journal:  Ann Clin Transl Neurol       Date:  2020-08-10       Impact factor: 4.511

9.  Multiple reversible encephalitic attacks: a rare manifestation of neuronal intranuclear inclusion disease.

Authors:  Mingming Li; Kai Li; Xin Li; Yun Tian; Lu Shen; Guode Wu; Zaiqiang Zhang; Weian Chen
Journal:  BMC Neurol       Date:  2020-04-08       Impact factor: 2.474

10.  Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease.

Authors:  Zhongbo Chen; Mina Ryten; Henry Houlden
Journal:  Ann Clin Transl Neurol       Date:  2020-10-30       Impact factor: 5.430

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