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Article ; Online: “Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis

Favio Pesaola / Guillermo Guelbert / Ana Clara Venier / Inés Adriana Cismondi / Adriana Becerra / Juan Carlos G. Vazquez / Elmer Fernandez / Ana Lucia De Paul / Norberto Guelbert / Inés Noher

Journal of Inborn Errors of Metabolism and Screening, Vol

The Argentine Experience in the Genomic Era

2021 Volume 9

Abstract: ABSTRACT Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration. Fourteen genes are currently recognized with ... ...

Abstract	ABSTRACT Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration. Fourteen genes are currently recognized with disease-causing DNA variants: PPT1/CLN1, TPP1/CLN2, CLN3, DNAJC5/CLN4, CLN5, CLN6, MFSD8/CLN7, CLN8, CTSD/CN10, GRN/CLN11, ATP13A2/CLN12, CTSF/CLN13, KCTD7/CLN14, TBCK/CLN15. In the frame of the Cordoba cohort, we studied N=51 cases. The aim of this paper is the observational and retrospective analysis of the “atypical” phenotypes. PCR-Sanger sequencing and/or massive exome sequencing were used as a screening methodology. One CLN1 subject showed an atypical prolonged (P) phenotype with null PPT1 activity and a heterozygous compound genotype: E5 c.451C>T, p.Arg151*/g.6302T>G (I3 c.363-3T>G). Other 11 CLN2 individuals (except one girl) showed TPP1 activity decreased to around 10% of the minimum value of the reference interval in leukocytes and saliva. The DNA variants E7 c.827A>T, p.Asp276Val and I7 c.887-10A>G were the most prevalent. One CLN8 individual showed an atypical congenital phenotype with a heterozygous combination of DNA variants: E2 c.1A>G, p.?/E3 c.792C>G, p.Asn264Lys. Massive sequencing was installed as a screening methodology for the precision diagnosis of atypical CLN1, CLN2, and CLN8 phenotypes. A genetic/phenotypic local registry is under construction.
Keywords	Neuronal CeroidLipofuscinosis ; Genomics ; CLN1 ; CLN2 ; CLN8 ; Atypical Phenotypes ; Medicine (General) ; R5-920
Subject code	610
Language	English
Publishing date	2021-05-01T00:00:00Z
Publisher	SciELO
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Position of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America

Norberto Guelbert / Nora Atanacio / Inés Denzler / Emília Katiane Embiruçu / Nury Mancilla / Ricardo Naranjo / André Pessoa / Norma Spécola / Lina Tavera / Mónica Troncoso / Diane Vergara

Journal of Inborn Errors of Metabolism and Screening, Vol

2020 Volume 8

Abstract: Abstract Given the lack of standardized guidance for follow-up of patients with neuronal ceroid lipofucsinosis-2 disease in Latin-American countries and the heterogeneity of the region, an expert panel was created with the participation of 11 pediatric ... ...

Abstract	Abstract Given the lack of standardized guidance for follow-up of patients with neuronal ceroid lipofucsinosis-2 disease in Latin-American countries and the heterogeneity of the region, an expert panel was created with the participation of 11 pediatric neurologists from Colombia, Argentina, Brazil and Chile. The aim of the expert panel was to describe a framework for standardized follow-up in patients with neuronal ceroid lipofucsinosis-2 disease, on or off therapy, that could benefit patients and treating physicians alike. Experts made recommendations in the following areas: seizures, abnormal movements and ataxia, sleep disorders and pain, cognitive function, visual function, hearing and speech, cardiac function, quality of life, and motor function. Recommendations include the most appropriate tools for use in the Latin-American context and health care systems, and provide feasible follow-up guidance, applicable in public and private healthcare facilities. They take into consideration the availability of clinical assessment resources, tools (scales, questionnaires, paraclinical tests) and access to these tools in Latin-American countries, as well as other regional and local needs defined by the participating experts.
Keywords	CLN2 disease ; neuronal ceroid lipofuscinosis type 2 ; follow-up ; lipofuscin storage diseases ; neuronal ceroid lipofuscinosis ; Medicine (General) ; R5-920
Subject code	070 ; 610
Language	English
Publishing date	2020-12-01T00:00:00Z
Publisher	SciELO
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Urea cycle disorders in Argentine patients

Silene M. Silvera-Ruiz / José A. Arranz / Johannes Häberle / Celia J. Angaroni / Miriam Bezard / Norberto Guelbert / Adriana Becerra / Fernanda Peralta / Raquel Dodelson de Kremer / Laura E. Laróvere

Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-

clinical presentation, biochemical and genetic findings

2019 Volume 8

Abstract: Abstract Background The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients examined ... ...

Abstract	Abstract Background The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients examined at a single reference center in Argentina. Results Forty-nine UCD cases were collected. About half (26/49, 53%) manifested neonatally with classical presentation and had a high mortality (25/26, 96%). Ornithine transcarbamylase deficiency (OTCD) was the most common UCD (26 patients). Argininosuccinate synthetase deficiency (ASSD) was detected in 19 cases, while argininosuccinate lyase deficiency (ASLD) was diagnosed in 4 cases. Molecular genetic analysis revealed 8 private OTC mutations and two large deletion/duplication events in the OTC gene. Most mutations in the ASS1 and ASL genes were recurrent missense changes, and four alterations were novel. The clinical outcome of our UCD cohort was poor, with an overall mortality of 57% (28/49 cases), and a 28% (6/21) disability rate among the survivors. Conclusions Most patients in our case series showed severe neonatal onset, with high morbidity/mortality. We detected in total 19 mutations, most of them recurrent and of high frequency worldwide. Noteworthy, we highlight the presence of a geographic cluster with high prevalence of a point mutation in the ASS1 gene. This study suggests that these disorders may be more frequent than commonly assumed, and stresses the need for increased awareness amongst health professionals and greater availability of diagnostic tools for accurate identification, early diagnosis, and timely treatment.
Keywords	Urea cycle defects ; Hyperammonemia ; Ornithine transcarbamylase deficiency ; Argininosuccinate synthetase deficiency ; Argininosuccinate lyase deficiency ; Medicine ; R
Subject code	616
Language	English
Publishing date	2019-08-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-

2021 Volume 19

Abstract: Abstract Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of ...

Abstract	Abstract Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of presenting symptoms often leads to delayed diagnosis. These guidelines provide robust evidence-based, expert-agreed recommendations on the risks/benefits of disease-modifying treatments and the medical interventions used to manage this condition. Methods An expert mapping tool process was developed ranking multidisciplinary professionals, with knowledge of CLN2 disease, diagnostic or management experience of CLN2 disease, or family support professionals. Individuals were sequentially approached to identify two chairs, ensuring that the process was transparent and unbiased. A systematic literature review of published evidence using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidance was independently and simultaneously conducted to develop key statements based upon the strength of the publications. Clinical care statements formed the basis of an international modified Delphi consensus determination process using the virtual meeting (Within3) online platform which requested experts to agree or disagree with any changes. Statements reaching the consensus mark became the guiding statements within this manuscript, which were subsequently assessed against the Appraisal of Guidelines for Research and Evaluation (AGREEII) criteria. Results Twenty-one international experts from 7 different specialities, including a patient advocate, were identified. Fifty-three guideline statements were developed covering 13 domains: General Description and Statements, Diagnostics, Clinical Recommendations and Management, Assessments, Interventions and Treatment, Additional Care Considerations, Social Care Considerations, Pain Management, Epilepsy / Seizures, Nutritional Care Interventions, Respiratory Health, Sleep and Rest, and End of Life Care. ...
Keywords	Expert mapping ; Guideline development program ; CLN2 ; Batten ; Neurodegenerative disorder ; Key Opinion Leader ; Medicine ; R
Subject code	610
Language	English
Publishing date	2021-04-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry

Pablo Neumann / Norberto Antongiovanni / Alejandro Fainboim / Isaac Kisinovsky / Hernán Amartino / Gustavo Cabrera / Sergio Carmona / Romina Ceci / Alberto Cicerán / Martín Choua / Griselda Doxastakis / Sonia De Maio / Roberto Ebner / Ana María Escobar / Gustavo Ferrari / Mariano Forrester / Norberto Guelbert / Paula Luna / Cinthia Marchesoni /

Francisca Masllorens / Juan Politei / Ricardo Reisin / Diego Ripeau / Paula Rozenfeld / Graciela Serebrinsky / Ana Lía Tarabuso / Juan Trípoli

Medicina (Buenos Aires), Vol 73, Iss 5, Pp 482-

2013 Volume 494

Abstract: La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado ... ...

Abstract	La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.
Keywords	Enfermedad de Fabry ; Guía ; Diagnóstico ; Seguimiento ; Terapia de reemplazo enzimático ; Medicine (General) ; R5-920 ; Medicine ; R
Language	Spanish
Publishing date	2013-10-01T00:00:00Z
Publisher	Fundación Revista Medicina
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry

Francisca Masllorens / Juan Politei / Ricardo Reisin / Diego Ripeau / Paula Rozenfeld / Graciela Serebrinsky / Ana Lía Tarabuso / Juan Trípoli

Medicina (Buenos Aires), Vol 73, Iss 5, Pp 482-

2013 Volume 494

Abstract	La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.
Keywords	Enfermedad de Fabry ; Guía ; Diagnóstico ; Seguimiento ; Terapia de reemplazo enzimático ; Medicine (General) ; R5-920 ; Medicine ; R
Language	Spanish
Publishing date	2013-10-01T00:00:00Z
Publisher	Fundación Revista Medicina
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry

Francisca Masllorens / Juan Politei / Ricardo Reisin / Diego Ripeau / Paula Rozenfeld / Graciela Serebrinsky / Ana Lía Tarabuso / Juan Trípoli

Medicina (Buenos Aires), Vol 73, Iss 5, Pp 482-

2013 Volume 494

Abstract	La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.
Keywords	Enfermedad de Fabry ; Guía ; Diagnóstico ; Seguimiento ; Terapia de reemplazo enzimático ; Medicine (General) ; R5-920 ; Medicine ; R
Language	Spanish
Publishing date	2013-10-01T00:00:00Z
Publisher	Fundación Revista Medicina
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry

Francisca Masllorens / Juan Politei / Ricardo Reisin / Diego Ripeau / Paula Rozenfeld / Graciela Serebrinsky / Ana Lía Tarabuso / Juan Trípoli

Medicina (Buenos Aires), Vol 73, Iss 5, Pp 482-

2013 Volume 494

Abstract	La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.
Keywords	Enfermedad de Fabry ; Guía ; Diagnóstico ; Seguimiento ; Terapia de reemplazo enzimático ; Medicine (General) ; R5-920 ; Medicine ; R
Language	Spanish
Publishing date	2013-10-01T00:00:00Z
Publisher	Fundación Revista Medicina
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry

Francisca Masllorens / Juan Politei / Ricardo Reisin / Diego Ripeau / Paula Rozenfeld / Graciela Serebrinsky / Ana Lía Tarabuso / Juan Trípoli

Medicina (Buenos Aires), Vol 73, Iss 5, Pp 482-

2013 Volume 494

Abstract	La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.
Keywords	Enfermedad de Fabry ; Guía ; Diagnóstico ; Seguimiento ; Terapia de reemplazo enzimático ; Medicine (General) ; R5-920 ; Medicine ; R
Language	Spanish
Publishing date	2013-10-01T00:00:00Z
Publisher	Fundación Revista Medicina
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry

Francisca Masllorens / Juan Politei / Ricardo Reisin / Diego Ripeau / Paula Rozenfeld / Graciela Serebrinsky / Ana Lía Tarabuso / Juan Trípoli

Medicina (Buenos Aires), Vol 73, Iss 5, Pp 482-

2013 Volume 494

Abstract	La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.
Keywords	Enfermedad de Fabry ; Guía ; Diagnóstico ; Seguimiento ; Terapia de reemplazo enzimático ; Medicine (General) ; R5-920 ; Medicine ; R
Language	Spanish
Publishing date	2013-10-01T00:00:00Z
Publisher	Fundación Revista Medicina
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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