Adult-onset neuronal intranuclear inclusion disease mimicking Fragile X-associated tremor-ataxia syndrome in ethnic Chinese patients

Shen-Yang Lim; Hiroyuki Ishiura; Norlisah Ramli; Shota Shibata; M Asem Almansour; Ai Huey Tan; Henry Houlden; Anthony E Lang; Shoji Tsuji

doi:10.1016/j.parkreldis.2020.03.025

Adult-onset neuronal intranuclear inclusion disease mimicking Fragile X-associated tremor-ataxia syndrome in ethnic Chinese patients

Parkinsonism Relat Disord. 2020 May:74:25-27. doi: 10.1016/j.parkreldis.2020.03.025. Epub 2020 Apr 8.

Authors

Shen-Yang Lim¹, Hiroyuki Ishiura², Norlisah Ramli³, Shota Shibata², M Asem Almansour², Ai Huey Tan⁴, Henry Houlden⁵, Anthony E Lang⁶, Shoji Tsuji⁷

Affiliations

¹ Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. Electronic address: limshenyang@gmail.com.
² Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
³ Division of Neuroradiology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
⁴ Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
⁵ Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
⁶ Edmond J Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Canada.
⁷ Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan.

PMID: 32289521
DOI: 10.1016/j.parkreldis.2020.03.025

Abstract

Two ethnic Chinese men with clinico-radiologic features of Fragile X-associated tremor-ataxia syndrome (FXTAS) were found on genetic testing to have neuronal intranuclear inclusion disease (NIID), highlighting that NIID should be considered in the differential diagnosis of FXTAS. NIID may also be much more common than FXTAS in certain Asian populations.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Ataxia / diagnosis*
Ataxia / physiopathology
Diagnosis, Differential
Fragile X Syndrome / diagnosis*
Fragile X Syndrome / physiopathology
Humans
Intranuclear Inclusion Bodies
Magnetic Resonance Imaging
Male
Middle Aged
Neurodegenerative Diseases / diagnosis*
Neurodegenerative Diseases / physiopathology
Tremor / diagnosis*
Tremor / physiopathology

Supplementary concepts

Fragile X Tremor Ataxia Syndrome
Neuronal intranuclear inclusion disease