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

Lv, Ruijuan; Li, Taoran; Zhang, Yu-Di; Shao, Xiaoqiu; Wang, Qun; Jin, Liri

doi:10.1002/acn3.51058

Cited by 8 publications

(10 citation statements)

References 37 publications

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“… 12 In patients diagnosed in Taiwan and mainland China, the most common types of mutations arec.544A>G. In contrast, the chance of cherry-red spots appearing in type I sialidosis reported in mainland China is notably higher than in Taiwan. 9 In this report, our first patient from the Hainan Free Trade Port caused by a mutation in this gene c.544A>G, and the patient did not show cherry-red spots in the fundus. Given the geographical proximity to Taiwan, we hypothesise that the presence of cherry-red spots may be related to the environment.…”

Section: Discussionmentioning

confidence: 64%

“…Only three cases were detected with cherry-red spots after over 10 years of follow-up 12. In patients diagnosed in Taiwan and mainland China, the most common types of mutations arec.544A>G. In contrast, the chance of cherry-red spots appearing in type I sialidosis reported in mainland China is notably higher than in Taiwan 9. In this report, our first patient from the Hainan Free Trade Port caused by a mutation in this gene c.544A>G, and the patient did not show cherry-red spots in the fundus.…”

Section: Discussionmentioning

confidence: 84%

“…However, these cherry-red spots may not be detected in clinical examinations for many years and may disappear in the late stages of the disease. Studies by Kivlin et al suggest that these spots may appear early and disappear later,8 while Qun Wang et al summarise that these spots could disappear as the disease progresses or appear 20 years after onset 9. Given the presence of cherry-red spots in the fundus, type I sialidosis is also known as cherry-red spot myoclonus syndrome 3.…”

Section: Discussionmentioning

confidence: 99%

“…Typically, researchers diagnose sialic acid disease by detecting neuraminidase activity in cultured fibroblasts or leucocytes. The enzyme activity is unstable and generally serves as a screening tool, but genetic testing is also key to a definitive diagnosis 9. Type 1 sialidosis is a progressively worsening disease without any particularly effective cure.…”

Section: Discussionmentioning

confidence: 99%

“…Studies by Kivlin et al suggest that these spots may appear early and disappear later, 8 while Qun Wang et al summarise that these spots could disappear as the disease progresses or appear 20 years after onset. 9 Given the presence of cherry-red spots in the fundus, type I sialidosis is also known as cherry-red spot myoclonus syndrome. 3 However, Bou Ghannam AS et al reported a case where no cherry-red spots were observed in the fundus.…”

Section: Discussionmentioning

confidence: 99%

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Sialidosis type 1 without cherry-red spots: a case report and literature review

Zhang,

Liao,

Zhou

et al. 2024

BMJ Neurol Open

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BackgroundSialidosis is a rare disorder caused by mutations in the NEU1 gene located on chromosome 6p21.3, constituting a group of autosomal recessive diseases. Enzyme activity analysis, electron microscopy examination and genetic testing are reliable methods for diagnosis. Despite previous reports on the disease, its rarity means that its clinical manifestations and prognosis still warrant attention due to the limited amount of information available.MethodsWe report a case of a 40-year-old woman who was admitted to our hospital for worsening dysarthria of 16 years duration and facial and limb twitching that had been present for 2 years. Genetic testing was undertaken.ResultsGenetic testing confirmed type I sialidosis, the first reported instance of this disease in the Hainan Free Trade Port in China. The patient did not have the typical cherry-red spot in the fundus. Despite aggressive treatment, she died of status epilepticus 2 months later. This result indicates that the disease has a poor prognosis.DiscussionCherry-red spots in the fundus are characteristic features of type I sialidosis and it has been referred to as the cherry-red spot myoclonus syndrome. We hypothesise that environmental factors may also play a significant role. Overemphasis on the presence of cherry-red spots may mislead clinicians and delay diagnosis. Furthermore, patients presenting with isolated myoclonus should undergo visual evoked potential and somatosensory evoked potential tests, as well as genetic testing to confirm or rule out sialidosis.

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Section: Discussionmentioning

confidence: 64%

Section: Discussionmentioning

confidence: 84%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Sialidosis type 1 without cherry-red spots: a case report and literature review

Zhang,

Liao,

Zhou

et al. 2024

BMJ Neurol Open

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Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation

Lin,

Li,

Chen

et al. 2024

Ann Clin Transl Neurol

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ObjectiveExpand genetic screening for atypical Type I sialidosis (ST‐1) could address its underdiagnosed in both progressive myoclonic ataxia (PMA) and ataxia patients. To evaluate the potential founder effect of mutation in the population.MethodsWe enrolled 231 patients with PMA or ataxia from the First Affiliated Hospital of Fujian Medical University. Through Whole Exome Sequencing and Sanger sequencing, we identified the causative gene in patients. Haplotype analysis was employed to explore a potential founder effect of the NEU1 c.544A>G mutation.ResultsA total of 31 patients from 23 unrelated families were genetically diagnosed with ST‐1. A significant 80.6% of these patients were homozygous for the c.544A>G mutation. We discovered six different NEU1 variants, including two novel mutations: c.951_968del and c.517T>G. The mean age of onset was 18.0 ± 7.1 years. The clinical spectrum of ST‐1 featured ataxia and myoclonus as the most common initial symptoms. Over 40% suffered from controlled generalized tonic–clonic seizures. Mobility and independence varied greatly across the cohort. Cherry‐red spots were rare, occurring in just 9.5% (2/21) of patients. Brain MRIs were typically unremarkable, except for two patients with unusual findings. EEGs showed diffuse paroxysmal activity in 17 patients. The c.544A>G mutation in NEU1 is a founder variant in Fujian, with a unique haplotype prevalent in East Asians.InterpretationST‐1 should be suspected in patients with PMA or ataxia in Southeast China, even without macular cherry‐red spots and seizures, and the premier test could be a variant screening of the founder variant NEU1 c.544A>G.

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Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature

Sheth,

Nair,

Bhavsar

et al. 2024

JIMD Reports

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Lysosomal storage disorders (LSDs) in adults have milder phenotype and variable age at presentation. Several studies have described the phenotype, genotype and treatment outcomes for adult‐onset LSDs like Gaucher, Fabry, Pompe disease and others. We describe the first systematic study on the occurrence of LSDs in an adult population from India. It describes, the key clinical signs seen in these patients and those from literature review that can aid in early detection. Of 2102 biochemically diagnosed LSDs cases, 32 adult patients were identified with LSDs. Based on the clinical suspicion, screening test and enzyme study was carried out. Twenty‐two patients were subjected to a genetic study to identify the causative variant in a respective gene. Of the 32 adult patients, we observed a maximum percentage of 37.5% (n = 12) cases with Gaucher disease, followed by 13% (n = 4) with Fabry disease. We found 10% of cases with MPS IVA and MPS I, and 9% cases with Pompe. Single case of adult mucolipidosis III and two cases each of Type 1 Sialidosis, Niemann‐Pick disease B and metachromatic leukodystrophy were identified. We observed two common variants p.Leu483Pro and p.Ala487Thr in the GBA1 gene in 23% of Indian patients with adult Gaucher disease. No common variants were observed in other aforementioned LSDs. Study identified 50% of Fabry patients and 4% of Gaucher patients diagnosed at our centre to be adults. The prevalence of adult Pompe patients was low (3.4%) as compared to 80% reported in the Caucasian population. Adult LSDs such as, MPS III, GM1/GM2 gangliosidosis and Krabbe disease were not identified in our cohort.

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

Cited by 8 publications

References 37 publications

Sialidosis type 1 without cherry-red spots: a case report and literature review

Sialidosis type 1 without cherry-red spots: a case report and literature review

Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature

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