A Case of Type I Sialidosis With Osteonecrosis Revealing a New Mutation in<i>NEU1</i>

Urbanski, G.; Bekri, Soumeya; Barth, Magalie; Verny, Christophe; Lavigne, Christian

doi:10.1177/2326409814543468

Cited by 4 publications

(2 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Thus far, it has not been considered a clinical sign of neuraminidase deficiency. Recent reports describe three neuraminidase-deficient patients with a history of osteonecrosis of the femur (Urbanski et al 2014;Canafoglia et al 2014). Patient 2 also presented with avascular femoral head osteonecrosis.…”

Section: Discussionmentioning

confidence: 99%

Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion

et al. 2015

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion

et al. 2015

View full text Add to dashboard Cite

show abstract

“…Sialidosis (Neuraminidase deficiency, OMIM# 256550) is a rare autosomal recessive disease with approximate prevalence of 1/5,000,000-1/1,500,000 live births, related to neuraminidase gene (NEU1) (OMIM * 608272) pathogenic variants, leading to neuraminidase (EC 3.2.1.18) deficiency. 1 Due to age of onset and severity, Sialidosis divided into 2 types; milder, late-onset, non-dysmorphic form, characterized by macular cherry-red spot, visual defects, myoclonus, ataxia, and seizures - Sialidosis type 1 and severe, early-onset, dysmorphic form - Sialidosis type 2. 2 Myoclonic movements are known to have many possible causes.…”

mentioning

confidence: 99%

Sialidosis type I presenting with a novel mutation and advanced neuroimaging features

Gültekın

Bayramov

Karaca

et al. 2018

NSJ

View full text Add to dashboard Cite

Sialidosis is a rare lysosomal storage disease caused by neuraminidase gene (NEU1) mutation and a deficiency of the enzyme neuraminidase. The aim of this study was to examine the sialidosis type 1 brain using volumetric magnetic resonance imaging (MRI), diffusion tensor imaging and functional MRI in comparison to 3 controls. The patients gene analysis identified compound heterozygous mutation in the NEU1 that is shown to be associated with the sialidosis type 1. In this very rarely seen case, we found volume changes in different brain structures. We found that subthalamic nucleus volumes were found to be smaller in the patient compared to the controls. Also, sialidosis type 1 had significantly smaller cerebellar volume compared with the control group. The case had higher mean diffusivity and lower fractional anisotropy values in the cerebellum and displayed abnormal functional connectivity.

show abstract

Clinical and genetic characteristics of type I sialidosis patients in mainland China

Zhang

et al. 2020

Ann Clin Transl Neurol

View full text Add to dashboard Cite

ObjectiveType I sialidosis (ST‐1) is a rare autosomal recessive inherited disorder. To date, there has been no study on ST‐1 patients in mainland China.MethodsWe reported in detail the cases of five Chinese ST‐1 patients from two centers, and summarized all worldwide cases. Then, we compared the differences between Chinese and foreign patients.ResultsA total of 77 genetically confirmed ST‐1 patients were identified: 12 from mainland China, 23 from Taiwan, 10 from other Asian regions, and 32 from European and American regions. The mean age of onset was 16.0 ± 6.7 years; the most common symptoms were myoclonus seizures (96.0%), followed by ataxia (94.3%), and blurred vision (67.2%). Compared to other groups, the onset age of patients from mainland China was much younger (10.8 ± 2.7 years). The incidence of visual impairment was lower in patients from other Asian regions than in patients from mainland China and Taiwan (28.6% vs. 81.8%–100%). Cherry‐red spots were less frequent in the Taiwanese patients than in patients from other regions (27.3% vs. 55.2%–90.0%). Furthermore, 48 different mutation types were identified. Chinese mainland and Taiwanese patients were more likely to carry the c.544A > G mutation (75% and 100%, respectively) than the patients from other regions (only 0%–10.0%). Approximately 50% of Chinese mainland patients carried the c.239C > T mutation, a much higher proportion than that found in the other populations. In addition, although the brain MRI of most patients was normal, 18F‐FDG‐PET analysis could reveal cerebellar and occipital lobe hypometabolism.InterpretationST‐1 patients in different regions are likely to have different mutation types; environmental factors may influence clinical manifestations. Larger studies enrolling more patients are required.

show abstract

A Case of Type I Sialidosis With Osteonecrosis Revealing a New Mutation inNEU1

Cited by 4 publications

References 6 publications

Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion

Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion

Sialidosis type I presenting with a novel mutation and advanced neuroimaging features

Clinical and genetic characteristics of type I sialidosis patients in mainland China

Contact Info

Product

Resources

About