Sialidosis Type 1 Without Cherry-Red Spot

Ghannam, Alaa S Bou; Mehner, Lauren; Pelak, Victoria S.

doi:10.1097/wno.0000000000000773

Cited by 7 publications

(8 citation statements)

References 5 publications

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“…The case with homozygous p.Arg294Cys mutation had a phenotype similar to that observed in our study, i.e., progressive myoclonus and ataxia without a CRS and seizures. 4 However, unlike our case, there was cognitive impairment, reduced visual acuity, nyctalopia, latent squint, skew deviation, mild thickening in perifoveal macula on optical coherence tomography (OCT), and cerebellar atrophy according to MRI of the brain. Another case with compound heterozygous mutation of the NEUI gene had a p.Arg294Cys mutation in one allele and a more severe truncating frame shift mutation in the other allele resulting in a typical type I phenotype, i.e., progressive ataxia, myoclonus, and a CRS.…”

Section: Discussioncontrasting

confidence: 76%

“…The cherry red spot (CRS) is a characteristic feature in both phenotypes; however, a small percentage of cases may not have a CRS. [1][2][3][4] This report discusses two cases of genetically confirmed sialidosis type I without a CRS.…”

Section: Jmdmentioning

confidence: 99%

“…Clinical exome sequencing revealed a previously reported pathogenic homozygous missense variant in exon 5 of the NEU1 gene (chr6: g.31827960G> A; p.Arg294Cys; ENST 00000375631.4). 4,5 Based on the clinical and genetic data, the patient was diagnosed with sialidosis type I and was treated with clonazepam, sodium valproate, and levetiracetam. He had mild improvement in myoclonus, gait, and falls.…”

Section: Case Report Casementioning

confidence: 99%

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Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?

Neeraja¹,

Holla²,

Prasad³

et al. 2021

JMD

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Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.

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Section: Discussioncontrasting

confidence: 76%

Section: Jmdmentioning

confidence: 99%

Section: Case Report Casementioning

confidence: 99%

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Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?

Neeraja¹,

Holla²,

Prasad³

et al. 2021

JMD

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“… 4 21 Bou Ghannam et al reported a patient without macular cherry-red spot but with thickened OCT and hyperautofluorescence perifoveally. 42 Analysing only macular thickness can lead us to false negatives due to this parameter being altered by the patients’ refraction. Evaluating the greyscale of the macular OCT can be particularly useful when the prototypical sign is not clinically evident.…”

Section: Discussionmentioning

confidence: 99%

A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot

et al. 2020

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AimTo describe the ophthalmologic findings on the largest cohort of patients with sialidosis type I due to deficiency of the lysosomal sialidase, neuraminidase 1 (NEU1) and to introduce a quantitative neuroretinal image analysis approach to the associated ‘macular cherry-red spot’.MethodsSeven patients with sialidosis type I (mutations in NEU1) and one with galactosialidosis (mutations in CTSA) were included. All patients underwent detailed ophthalmological examinations. The reflectivity of macular optical coherence tomography (OCT) was measured using greyscale analysis (Fiji) and compared with age-matched healthy volunteers. Four patients were evaluated over a time of 1.5+0.5 years.ResultsThe mean age of the patients at their first visit was 27.5+9.8 years. All patients had a macular cherry-red spot, clear corneas and visually non-significant lenticular opacities. The mean visual acuity was LogMar 0.4 (20/50)+0.4 (20/20 to 20/125). Six patients had good visual function. Optic atrophy was present in two individuals with reduced acuity. A significant increase in macular reflectivity was present in all patients compared to age-matched controls (p<0.0001).ConclusionMost of our patients (75%) have preserved visual acuity, even in adulthood. The presence of optic atrophy is associated with poor visual acuity. Increased macular reflectivity by OCT greyscale measurements is noted in all patients, although the underlying biological basis is unknown. These findings complement the current methods for examining and monitoring disease progression, especially in patients for whom visualisation of the cherry-red spot is not entirely clear.Trial registration numberNCT00029965.

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“…The characteristic cherry-red spot due to accumulation of metabolic substrates in the macular area represents a cardinal sign shared by both forms and has long been considered as the most typical marker of sialidosis. However, patients presenting without the macular cherry-red spot have been reported and clinical presentation might be subtle at the onset [2,3]. As myoclonus is the key symptom being present in 100% of the patients, type 1 sialidosis is considered among the progressive myoclonus epilepsies (PMEs).…”

Section: Introductionmentioning

confidence: 99%

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

et al. 2020

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Background: Sialidosis is a rare autosomal recessive disease caused by NEU1 mutations, leading to neuraminidase deficiency and accumulation of sialic acid-containing oligosaccharides and glycopeptides into the tissues. Sialidosis is divided into two clinical entities, depending on residual enzyme activity, and can be distinguished according to age of onset, clinical features, and progression. Type 1 sialidosis is the milder, late-onset form, also known as non-dysmorphic sialidosis. It is commonly characterized by progressive myoclonus, ataxia, and a macular cherry-red spot. As a rare condition, the diagnosis is often only made after few years from onset, and the clinical management might prove difficult. Furthermore, the information in the literature on the long-term course is scarce. Case presentations: We describe a comprehensive clinical, neuroradiological, ophthalmological, and electrophysiological history of four unrelated patients affected by type 1 sialidosis. The long-term care and novel clinical and neuroradiological insights are discussed. Discussion and conclusions: We report the longest follow-up (up to 30 years) ever described in patients with type 1 sialidosis. During the course, we observed a high degree of motor and speech disability with preserved cognitive functions. Among the newest antiseizure medication, perampanel (PER) was proven to be effective in controlling myoclonus and tonic–clonic seizures, confirming it is a valid therapeutic option for these patients. Brain magnetic resonance imaging (MRI) disclosed new findings, including bilateral gliosis of cerebellar folia and of the occipital white matter. In addition, a newly reported variant (c.914G > A) is described.

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Sialidosis Type 1 Without Cherry-Red Spot

Cited by 7 publications

References 5 publications

Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?

Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?

A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

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