Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement

Ahmed N. Mohammad, Katelyn A. Bruno, S. Hines, Paldeep S. Atwal

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1 which encodes lysosomal sialidase (neuraminidase 1). Lysosomal neuraminidase catalyzes the removal of terminal sialic acid molecules from glycolipids, glycoproteins and oligosaccharides. Sialidosis is classified into two types, based on phenotype and age of onset. Patients with the milder type 1 typically present late, usually in the second or third decade, with myoclonus, ataxia and visual defects. Type 2 is more severe and presents earlier with coarse facial features, developmental delay, hepatosplenomegaly and dysostosis multiplex. Presentation and severity of the disease are related to whether lysosomal sialidase is inactive or there is some residual activity. Diagnosis is suspected based on clinical features and increased urinary bound sialic acid excretion and confirmed by genetic testing showing pathogenic variants in NEU1. We report a patient with type 1 sialidosis who presented mainly with ataxia and both generalized and myoclonic seizures but no visual involvement. Whole exome sequencing of the proband detected compound heterozygous likely pathogenic variants (S182G and G227R) in NEU1.

Original languageEnglish (US)
Pages (from-to)11-14
Number of pages4
JournalMolecular Genetics and Metabolism Reports
Volume15
DOIs
StatePublished - Jun 1 2018

Fingerprint

Neuraminidase
Seizures
Mucolipidoses
N-Acetylneuraminic Acid
Dysostoses
Lysosomal Storage Diseases
Exome
Glycolipids
Genetic Testing
Ataxia
Oligosaccharides
Age of Onset
Glycoproteins
Phenotype
Hunt's syndrome
Neuraminidase 1 deficiency

Keywords

  • Ataxia
  • Myoclonus
  • NEU1
  • Neurodeaminiase
  • Sialidosis

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement. / Mohammad, Ahmed N.; Bruno, Katelyn A.; Hines, S.; Atwal, Paldeep S.

In: Molecular Genetics and Metabolism Reports, Vol. 15, 01.06.2018, p. 11-14.

Research output: Contribution to journalArticle

Mohammad, Ahmed N. ; Bruno, Katelyn A. ; Hines, S. ; Atwal, Paldeep S. / Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement. In: Molecular Genetics and Metabolism Reports. 2018 ; Vol. 15. pp. 11-14.
@article{27bd4b206c824c2ca40e82f6d7fbed41,
title = "Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement",
abstract = "Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1 which encodes lysosomal sialidase (neuraminidase 1). Lysosomal neuraminidase catalyzes the removal of terminal sialic acid molecules from glycolipids, glycoproteins and oligosaccharides. Sialidosis is classified into two types, based on phenotype and age of onset. Patients with the milder type 1 typically present late, usually in the second or third decade, with myoclonus, ataxia and visual defects. Type 2 is more severe and presents earlier with coarse facial features, developmental delay, hepatosplenomegaly and dysostosis multiplex. Presentation and severity of the disease are related to whether lysosomal sialidase is inactive or there is some residual activity. Diagnosis is suspected based on clinical features and increased urinary bound sialic acid excretion and confirmed by genetic testing showing pathogenic variants in NEU1. We report a patient with type 1 sialidosis who presented mainly with ataxia and both generalized and myoclonic seizures but no visual involvement. Whole exome sequencing of the proband detected compound heterozygous likely pathogenic variants (S182G and G227R) in NEU1.",
keywords = "Ataxia, Myoclonus, NEU1, Neurodeaminiase, Sialidosis",
author = "Mohammad, {Ahmed N.} and Bruno, {Katelyn A.} and S. Hines and Atwal, {Paldeep S.}",
year = "2018",
month = "6",
day = "1",
doi = "10.1016/j.ymgmr.2017.12.005",
language = "English (US)",
volume = "15",
pages = "11--14",
journal = "Molecular Genetics and Metabolism Reports",
issn = "2214-4269",
publisher = "Elsevier BV",

}

TY - JOUR

T1 - Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement

AU - Mohammad, Ahmed N.

AU - Bruno, Katelyn A.

AU - Hines, S.

AU - Atwal, Paldeep S.

PY - 2018/6/1

Y1 - 2018/6/1

N2 - Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1 which encodes lysosomal sialidase (neuraminidase 1). Lysosomal neuraminidase catalyzes the removal of terminal sialic acid molecules from glycolipids, glycoproteins and oligosaccharides. Sialidosis is classified into two types, based on phenotype and age of onset. Patients with the milder type 1 typically present late, usually in the second or third decade, with myoclonus, ataxia and visual defects. Type 2 is more severe and presents earlier with coarse facial features, developmental delay, hepatosplenomegaly and dysostosis multiplex. Presentation and severity of the disease are related to whether lysosomal sialidase is inactive or there is some residual activity. Diagnosis is suspected based on clinical features and increased urinary bound sialic acid excretion and confirmed by genetic testing showing pathogenic variants in NEU1. We report a patient with type 1 sialidosis who presented mainly with ataxia and both generalized and myoclonic seizures but no visual involvement. Whole exome sequencing of the proband detected compound heterozygous likely pathogenic variants (S182G and G227R) in NEU1.

AB - Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1 which encodes lysosomal sialidase (neuraminidase 1). Lysosomal neuraminidase catalyzes the removal of terminal sialic acid molecules from glycolipids, glycoproteins and oligosaccharides. Sialidosis is classified into two types, based on phenotype and age of onset. Patients with the milder type 1 typically present late, usually in the second or third decade, with myoclonus, ataxia and visual defects. Type 2 is more severe and presents earlier with coarse facial features, developmental delay, hepatosplenomegaly and dysostosis multiplex. Presentation and severity of the disease are related to whether lysosomal sialidase is inactive or there is some residual activity. Diagnosis is suspected based on clinical features and increased urinary bound sialic acid excretion and confirmed by genetic testing showing pathogenic variants in NEU1. We report a patient with type 1 sialidosis who presented mainly with ataxia and both generalized and myoclonic seizures but no visual involvement. Whole exome sequencing of the proband detected compound heterozygous likely pathogenic variants (S182G and G227R) in NEU1.

KW - Ataxia

KW - Myoclonus

KW - NEU1

KW - Neurodeaminiase

KW - Sialidosis

UR - http://www.scopus.com/inward/record.url?scp=85040363026&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85040363026&partnerID=8YFLogxK

U2 - 10.1016/j.ymgmr.2017.12.005

DO - 10.1016/j.ymgmr.2017.12.005

M3 - Article

AN - SCOPUS:85040363026

VL - 15

SP - 11

EP - 14

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

SN - 2214-4269

ER -