Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients

Caciotti, Anna; Rocco, Maja Di; Filocamo, Mirella; Grossi, Serena; Traverso, F.; d’Azzo, Alessandra; Cavicchi, Catia; Messeri, Andrea; Guerrini, Renzo; Zammarchi, Enrico; Donati, M. A.; Morrone, Amelia

doi:10.1007/s00415-009-5213-4

Cited by 35 publications

(45 citation statements)

References 25 publications

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“…The age of onset and severity of the clinical manifestations are correlated with NEU1 mutations (10,11) and the level of residual neuraminidase activity (10,12,13), indicating the existence of considerable genotype-phenotype correlation in this disease. To date, more than 40 mutations within the NEU1 gene have been identified in patients with sialidosis type I or type II (2,3,(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24).…”

Section: Introductionmentioning

confidence: 99%

Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the <i>NEU1</i> Gene

et al. 2013

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The case of a Japanese sialidosis type I patient with a novel NEU1 gene mutation is described. The patient developed an unsteady gait at age 14 and was referred to our hospital at age 16. On admission, subnormal intelligence, dysarthria, myoclonus, intentional tremors, limb and gait ataxia, hyperreflexia and macular cherry-red spots were observed. An enzymological analysis revealed a primary deficiency of neuraminidase. An NEU1 gene analysis identified two heterozygous missense mutations: p.P80L and p.D135N. The p.D135N mutation is a novel mutation that is considered to be associated with the mild clinical phenotype of sialidosis. Serial brain MRI showed diffuse brain atrophy progressing rapidly over the 41-month observation period.

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Section: Introductionmentioning

confidence: 99%

Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the <i>NEU1</i> Gene

et al. 2013

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“…Mental retardation is costant. Survival rarely exceed the second, third decade of life (Winter et al, 1980;Caciotti et al, 2009;Canafoglia et al, 2011).…”

Section: Clinical Aspectsmentioning

confidence: 99%

“…The assessment of chitotriosidase activity in serum, a marker of macrophage activation, is substantially elevated in patients affected with GD and may be slightly elevated in patients with NPC disease. In addition, a recent report described the presence of high levels of chitotriosidase activity in 2 patients affected www.intechopen.com with sialidosis type II ( Caciotti et al, 2009). However, about 30% of individual from various genetic origins carry a chitotriosidase gene with a 24 bp duplication that prevents the production of the enzyme.…”

Section: Laboratory Diagnosismentioning

confidence: 99%

Myoclonic Epilepsy in Lysosomal Storage Disorders

Dardis¹,

Bembi²

2011

Novel Aspects on Epilepsy

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“…For instance, according to a study by Caciotti et al (2009), 9 of 43 persons with sialidosis type II have cherry red spot of the macula. This can be important for differential diagnostic purposes.…”

Section: The Human Phenotype Ontologymentioning

confidence: 99%

Ontological phenotype standards for neurogenetics

Köhler¹,

Doelken²,

Rath³

et al. 2012

Hum. Mutat.

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Neurological disorders comprise one of the largest groups of human diseases. Due to the myriad symptoms and the extreme degree of clinical variability characteristic of many neurological diseases, the differential diagnosis process is extremely challenging. Even though most neurogenetic diseases are individually rare, collectively, the subgroup of neurogenetic disorders is large, comprising more than 2,400 different disorders. Recently, increasing efforts have been undertaken to unravel the molecular basis of neurogenetic diseases and to correlate pathogenetic mechanisms with clinical signs and symptoms. In order to enable computer-based analyses, the systematic representation of the neurological phenotype is of major importance. We demonstrate how the Human Phenotype Ontology (HPO) can be incorporated into these efforts by providing a systematic semantic representation of phenotypic abnormalities encountered in human ge- KEY WORDS: phenotype; ontology; neurogenetics; data integration; orphan diseases Representation of Phenotypic Data in Clinical NeurologyThe differential diagnostic process for neurological disorders is one of the most challenging in medical practice, which is especially true for rare neurological diseases, defined as those that affect less than 1 in 2,000 persons. Unlike many other clinical disciplines, the day-to-day practice of neurology involves a pantheon of symptoms and long lists of differential diagnoses; the challenge is often to identify rare neurological diseases, especially those that require an individualized approach to clinical management [Chinnery, 2010]. Many rare neurological diseases are genetic in origin, and are associated with one or more functional and structural abnormalities of the nervous system. They originate from a wide spectrum of molecular and cellular defects and include skeletal muscle channelopathies, neuropathies, epilepsies, neurovascular disorders, neurocutaneous syndromes, mitochondrial diseases, nondegenerative movement disorders, inherited ataxias, neurodegenerative disorders, dementias, myopathies, and muscular atrophies. Currently, the classification of rare neurological diseases in the Orphanet database lists more than 2,400 different diseases. The differential diagnosis can be a daunting challenge for physicians, and affected patients may wait years before receiving a correct and precise diagnosis. For many patients, the underlying cause of the clinical manifestations may remain unknown.Several major international initiatives in neuroscience have emerged with the goal of developing computational models of the brain including the Neuroscience Information Framework and the Human Brain Project [Gardner et al., 2008]. Ontologies are playing a major role in these efforts to ensure interoperability across neuroscience databases, to integrate neuroscience information from disparate sources to improve our understanding of the brain, and to enable computer reasoning. In computer science, the word "ontology" is used to describe a structured, automated...

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Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients

Cited by 35 publications

References 25 publications

Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the <i>NEU1</i> Gene

Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the <i>NEU1</i> Gene

Myoclonic Epilepsy in Lysosomal Storage Disorders

Ontological phenotype standards for neurogenetics

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