Cargando…

FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report

BACKGROUND: Both fragile X-associated tremor/ataxia syndrome (FXTAS) and late-onset neuronal intranuclear inclusion disease (NIID) show CGG/GGC trinucleotide repeat expansions. Differentiating these diseases are difficult because of the similarity in their clinical and radiological features. It is u...

Descripción completa

Detalles Bibliográficos
Autores principales:	Toko, Megumi, Ohshita, Tomohiko, Kurashige, Takashi, Morino, Hiroyuki, Kume, Kodai, Yamashita, Hiroshi, Sobue, Gen, Iwasaki, Yasushi, Sone, Jun, Kawakami, Hideshi, Maruyama, Hirofumi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8513318/ https://www.ncbi.nlm.nih.gov/pubmed/34641814 http://dx.doi.org/10.1186/s12883-021-02425-z

Ejemplares similares

Correction to: FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report
por: Toko, Megumi, et al.
Publicado: (2021)

Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging
por: Kikumoto, Mai, et al.
Publicado: (2021)

Neuronal Intranuclear Inclusion Disease Presenting with Resting Tremor
por: Kitagawa, Naoyuki, et al.
Publicado: (2014)

‘Raisin bread sign’ feature of pontine autosomal dominant microangiopathy and leukoencephalopathy
por: Kikumoto, Mai, et al.
Publicado: (2023)

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease
por: Sone, Jun, et al.
Publicado: (2016)

Non-convulsive status epilepticus associated with neuronal intranuclear inclusion disease: A case report and literature review
por: Shindo, Kazumasa, et al.
Publicado: (2019)

Biallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxia
por: Matsuda, Yukiko, et al.
Publicado: (2020)

Unilateral Wing-Beating Tremor in Neuronal Intranuclear Inclusion Disease
por: Sugiyama, Atsuhiko, et al.
Publicado: (2023)

NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment
por: Sone, Jun, et al.
Publicado: (2023)

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
por: Kume, Kodai, et al.
Publicado: (2020)

Emerging topics in FXTAS
por: Hall, Deborah A, et al.
Publicado: (2014)

Perfusion abnormality in neuronal intranuclear inclusion disease with stroke-like episode: A case report
por: Kutsuna, Fumiya, et al.
Publicado: (2022)

Erratum: Emerging topics in FXTAS
por: Hall, Deborah A, et al.
Publicado: (2015)

Neuropathy/intranuclear inclusion bodies in oculopharyngodistal myopathy: A case report
por: Matsubara, Tomoyasu, et al.
Publicado: (2021)

Neuronal intranuclear inclusion disease is genetically heterogeneous
por: Chen, Zhongbo, et al.
Publicado: (2020)

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
por: Morino, Hiroyuki, et al.
Publicado: (2014)

Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases
por: Lechpammer, Mirna, et al.
Publicado: (2017)

TDP-43 Accumulation Within Intramuscular Nerve Bundles of Patients With Amyotrophic Lateral Sclerosis
por: Kurashige, Takashi, et al.
Publicado: (2022)

A case of unusual renal manifestation in a patient with neuronal intranuclear inclusion disease treated with steroids
por: Morita, Keisuke, et al.
Publicado: (2023)

Essential tremor with ubiquitinated intranuclear inclusions and cerebellar degeneration
por: Louis, Elan D., et al.
Publicado: (2012)

Intranuclear inclusions in a fragile X mosaic male
por: Pretto, Dalyir I, et al.
Publicado: (2013)

Characterization of two types of intranuclear hepatocellular inclusions in NAFLD
por: Schwertheim, Suzan, et al.
Publicado: (2020)

Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions
por: Kawazoe, Tomoya, et al.
Publicado: (2021)

Clinical and mechanism advances of neuronal intranuclear inclusion disease
por: Liu, Yueqi, et al.
Publicado: (2022)

Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
por: Tai, Hongfei, et al.
Publicado: (2023)

Characteristics of autonomic dysfunction in neuronal intranuclear inclusion disease
por: Zhou, Lu, et al.
Publicado: (2023)

Prospective Memory Deficits in Multiple Sclerosis: Voxel-based Morphometry and Double Inversion Recovery Analysis
por: Toko, Megumi, et al.
Publicado: (2021)

Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series
por: Ueno, Hiroki, et al.
Publicado: (2011)

Current Gaps in Understanding the Molecular Basis of FXTAS
por: Hagerman, Paul J.
Publicado: (2012)

Efficacy of Lacosamide in a Patient with Refractory Generalized Epilepsy Based on Video Electroencephalography
por: Yamada, Hidetada, et al.
Publicado: (2021)

Temporal Changes in Brain Magnetic Resonance Imaging Findings over 16 Years in a Patient with Neuronal Intranuclear Inclusion Disease
por: Tamura, Aiko, et al.
Publicado: (2021)

A case of neuronal intranuclear inclusion disease with recurrent vomiting and without apparent DWI abnormality for the first seven years
por: Okamura, Shun, et al.
Publicado: (2020)

An Electron Microscope Study of Intranuclear Inclusions in Mouse Liver and Hepatoma
por: Leduc, Elizabeth H., et al.
Publicado: (1959)

Re‐defining the clinicopathological spectrum of neuronal intranuclear inclusion disease
por: Chen, Hao, et al.
Publicado: (2020)

No evidence supports the genetic heterogeneity of Neuronal intranuclear inclusion disease
por: Li, Hao, et al.
Publicado: (2020)

Temporal Changes in Brain Perfusion in Neuronal Intranuclear Inclusion Disease
por: Ataka, Takuya, et al.
Publicado: (2020)

Intranuclear birefringent inclusions in paraffin sections by polychromatic polarization microscopy
por: Vitkunaite, Aiste, et al.
Publicado: (2021)

Characteristic cerebral perfusion pattern in neuronal intranuclear inclusion disease
por: Tai, Hong-Fei, et al.
Publicado: (2022)

Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel Ca(V)3.1 caused by a mutation responsible for spinocerebellar ataxia
por: Hara, Naoyuki, et al.
Publicado: (2020)

A Chinese case of fragile X-associated tremor/ataxia syndrome (FXTAS) with orthostatic tremor:case report and literature review on tremor in FXTAS
por: Zhao, Cuiping, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_4mh4848i83ob46fh2t7neejb6u