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

Gültekın, Murat; Bayramov, Ruslan; Karaca, Cagatay; Acer, Niyazi

doi:10.17712/nsj.2018.1.20170328

Cited by 11 publications

(9 citation statements)

References 6 publications

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“…Diffuse brain atrophy is commonly observed in the advanced stage of type 1 sialidosis. However, atrophy can be severe, mostly affecting the cerebellum, cerebellar peduncles, cerebral hemispheres, and corpus callosum [3,18], and in some cases, it may progress rapidly [19]. Lu et al previously studied the brain functional MRI of 11 patients affected by type 1 sialidosis, demonstrating a compromised posterior visual pathway, and concluding that the posterior part of the brain could be extensively involved, in addition to the eye abnormality [20].…”

Section: Discussionmentioning

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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Section: Discussionmentioning

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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“…Sialidosis, Type II (OMIM #256550) is caused by a mutation of NEU1 (Neuraminidase-1), leading to the lysosomal accumulation of sialylated glycopeptides and oligosaccharides, manifesting in gait disturbances, corneal clouding and psychomotor retardation. Patients present with decreased cerebellum volume, as well as cortical and occipital lobe atrophy (Gultekin et al, 2018). There is no specific treatment for Sialidosis, Type II.…”

Section: Glycoproteinosesmentioning

confidence: 99%

Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases

Favret

Weinstock

Feltri

et al. 2020

Front. Mol. Biosci.

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There are over 50 lysosomal hydrolase deficiencies, many of which cause neurodegeneration, cognitive decline and death. In recent years, a number of broad innovative therapies have been proposed and investigated for lysosomal storage diseases (LSDs), such as enzyme replacement, substrate reduction, pharmacologic chaperones, stem cell transplantation, and various forms of gene therapy. Murine models that accurately reflect the phenotypes observed in human LSDs are critical for the development, assessment and implementation of novel translational therapies. The goal of this review is to summarize the neurodegenerative murine LSD models available that recapitulate human disease, and the pre-clinical studies previously conducted. We also describe some limitations and difficulties in working with mouse models of neurodegenerative LSDs.

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“…In literature, most studies were performed on a 1.5 T or 3 T MR scanners. During a resting-state fMRI scan, both structural imaging and gradient-echo echo-planar imaging T2* weighted sequences are taken to measure to brain activity (8). A time series of 3D images is collected for fMRI data.…”

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confidence: 99%

“…For rs-fMRI analyses, software such as statistical parametric map (SPM), REST, FSL, CONN are used for pre and post-processing analysis (1). For analysis, head motion correction is done, the functional images are co-registered to structural images using a six-parameter rigid-body transformation and a 12-parameter affine transformation (8). The preprocessing steps include slice timing, realignment to correct head motion, co-registration to anatomical images, and normalization to a standard template.…”

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confidence: 99%

“…The preprocessing steps include slice timing, realignment to correct head motion, co-registration to anatomical images, and normalization to a standard template. After these processes, the images are smoothed (8). A general linear model (GLM) is commonly used for statistical assumptions of brain activation maps that convert a voxel time series into a space defined in the design matrix spanned by a set of basis vectors (3).…”

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confidence: 99%

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