Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease

Raul E. Piña-Aguilar, Aurea Vera-Loaiza, Oscar F. Chacón-Camacho, Juan Carlos Zenteno, Lilia Nuñez-Orozco, Yuritzi Santillán-Hernández

Research output: Contribution to journalArticle

Abstract

Niemann-Pick type C disease (NPC) is a rare lysosomal disease with a protean presentation, ranging from a fatal neonatal course with visceromegaly to an adult presentation with only neurological or psychiatric symptomatology. In this report we describe the genetic and clinical characteristics of 3 Mexican patients from different families with juvenile presentation of NPC. Clinical examination, imaging of central nervous and gastrointestinal system, and EEG were performed. Genetic studies include sequencing and deletion/duplication analysis of NPC1 and NPC2 genes. All patients presented with cognitive impairment, ataxia, and supranuclear vertical gaze palsy; one case had gelastic cataplexy. Also they developed epilepsy and cortical atrophy and two patients had thinning of corpus callosum. The 3 patients were compound heterozygotes for NPC1 sequence variants, including 5 missense and 1 nonsense mutations: p.P1007A and p.F1087L in Case 1; p.Q921P and p.G992R in Case 2; and p.R348∗ and p.V1165M in case 3. Mexican patients with juvenile NPC presented with a variable clinical phenotype and compound heterozygosity. This suggests a relative high frequency of mutation carriers as it is reported for European population. Consequently, clinicians should consider NPC as a diagnosis possibility in any adolescent or young adult patient with juvenile dementia and/or ataxia, even in absence of gelastic cataplexy and supranuclear vertical gaze palsy.

Original languageEnglish
Article number785890
Pages (from-to)1-8
Number of pages8
JournalCase reports in neurological medicine
Volume2014
DOIs
Publication statusPublished - 2 Oct 2014

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Type C Niemann-Pick Disease
Laughter
Cataplexy
Ataxia
Paralysis
Corpus Callosum
Nonsense Codon
Mutation Rate
Heterozygote
Rare Diseases
Atrophy
Psychiatry
Dementia
Young Adult
Electroencephalography
Epilepsy
Central Nervous System
Phenotype
Population
Genes

Cite this

Piña-Aguilar, R. E., Vera-Loaiza, A., Chacón-Camacho, O. F., Zenteno, J. C., Nuñez-Orozco, L., & Santillán-Hernández, Y. (2014). Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease. Case reports in neurological medicine, 2014, 1-8. [785890]. https://doi.org/10.1155/2014/785890

Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease. / Piña-Aguilar, Raul E.; Vera-Loaiza, Aurea; Chacón-Camacho, Oscar F.; Zenteno, Juan Carlos; Nuñez-Orozco, Lilia; Santillán-Hernández, Yuritzi.

In: Case reports in neurological medicine, Vol. 2014, 785890, 02.10.2014, p. 1-8.

Research output: Contribution to journalArticle

Piña-Aguilar, RE, Vera-Loaiza, A, Chacón-Camacho, OF, Zenteno, JC, Nuñez-Orozco, L & Santillán-Hernández, Y 2014, 'Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease', Case reports in neurological medicine, vol. 2014, 785890, pp. 1-8. https://doi.org/10.1155/2014/785890
Piña-Aguilar, Raul E. ; Vera-Loaiza, Aurea ; Chacón-Camacho, Oscar F. ; Zenteno, Juan Carlos ; Nuñez-Orozco, Lilia ; Santillán-Hernández, Yuritzi. / Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease. In: Case reports in neurological medicine. 2014 ; Vol. 2014. pp. 1-8.
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abstract = "Niemann-Pick type C disease (NPC) is a rare lysosomal disease with a protean presentation, ranging from a fatal neonatal course with visceromegaly to an adult presentation with only neurological or psychiatric symptomatology. In this report we describe the genetic and clinical characteristics of 3 Mexican patients from different families with juvenile presentation of NPC. Clinical examination, imaging of central nervous and gastrointestinal system, and EEG were performed. Genetic studies include sequencing and deletion/duplication analysis of NPC1 and NPC2 genes. All patients presented with cognitive impairment, ataxia, and supranuclear vertical gaze palsy; one case had gelastic cataplexy. Also they developed epilepsy and cortical atrophy and two patients had thinning of corpus callosum. The 3 patients were compound heterozygotes for NPC1 sequence variants, including 5 missense and 1 nonsense mutations: p.P1007A and p.F1087L in Case 1; p.Q921P and p.G992R in Case 2; and p.R348∗ and p.V1165M in case 3. Mexican patients with juvenile NPC presented with a variable clinical phenotype and compound heterozygosity. This suggests a relative high frequency of mutation carriers as it is reported for European population. Consequently, clinicians should consider NPC as a diagnosis possibility in any adolescent or young adult patient with juvenile dementia and/or ataxia, even in absence of gelastic cataplexy and supranuclear vertical gaze palsy.",
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N2 - Niemann-Pick type C disease (NPC) is a rare lysosomal disease with a protean presentation, ranging from a fatal neonatal course with visceromegaly to an adult presentation with only neurological or psychiatric symptomatology. In this report we describe the genetic and clinical characteristics of 3 Mexican patients from different families with juvenile presentation of NPC. Clinical examination, imaging of central nervous and gastrointestinal system, and EEG were performed. Genetic studies include sequencing and deletion/duplication analysis of NPC1 and NPC2 genes. All patients presented with cognitive impairment, ataxia, and supranuclear vertical gaze palsy; one case had gelastic cataplexy. Also they developed epilepsy and cortical atrophy and two patients had thinning of corpus callosum. The 3 patients were compound heterozygotes for NPC1 sequence variants, including 5 missense and 1 nonsense mutations: p.P1007A and p.F1087L in Case 1; p.Q921P and p.G992R in Case 2; and p.R348∗ and p.V1165M in case 3. Mexican patients with juvenile NPC presented with a variable clinical phenotype and compound heterozygosity. This suggests a relative high frequency of mutation carriers as it is reported for European population. Consequently, clinicians should consider NPC as a diagnosis possibility in any adolescent or young adult patient with juvenile dementia and/or ataxia, even in absence of gelastic cataplexy and supranuclear vertical gaze palsy.

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