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1.
NPJ Parkinsons Dis ; 9(1): 160, 2023 Dec 07.
Artículo en Inglés | MEDLINE | ID: mdl-38062033

RESUMEN

There is a paucity of genetic characterization in people with Parkinson's disease (PD) of Latino and Afro-Caribbean descent. Screening LRRK2 and GBA variants in 32 New Yorkers of Puerto Rican ethnicity with PD and in 119 non-Hispanic-non-Jewish European PD cases revealed that Puerto Rican participants were more likely to harbor the LRRK2-p.G2019S variant (15.6% vs. 4.2%, respectively). Additionally, whole exome sequencing of twelve Puerto Rican and Dominican PD participants was performed as an exploratory study.

2.
Mol Genet Genomic Med ; 11(1): e2064, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-36148638

RESUMEN

BACKGROUND: SYNJ1 encodes Synaptojanin-1, a dual-function poly-phosphoinositide phosphatase that is expressed in the brain to regulate neuronal synaptic vesicle dynamics. Biallelic SYNJ1 variants cause a spectrum of clinical manifestations, from early onset parkinsonism to developmental and epileptic encephalopathy. METHODS: Proband-only exome sequencing was used to identify a homozygous SYNJ1 pathogenic variant in an individual with epileptic encephalopathy. Sanger sequencing was used to confirm the variant. RESULTS: We present an Afro-Caribbean female who developed uncontrollable seizures shortly after birth, accompanied by developmental delay and severe generalized dystonia. She had homozygosity for a novel c.242-2A > G variant in SYNJ1 with both parents being heterozygous carriers. An older sister was reported to have had a similar presentation but was not examined. Both siblings died at an approximate age of 16 years. CONCLUSIONS: We report a novel pathogenic variant in SYNJ1 present in homozygosity leading to developmental and epileptic encephalopathy. Currently, there are only 4 reports describing 10 individuals with SYNJ1-related developmental and epileptic encephalopathy. This case expands the clinical knowledge and the allelic heterogeneity associated with SYNJ1 variants.


Asunto(s)
Epilepsia Generalizada , Humanos , Femenino , Adolescente , Homocigoto , Encéfalo , Convulsiones , Región del Caribe
3.
Eur J Neurol ; 28(6): 1901-1909, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33730413

RESUMEN

BACKGROUND AND PURPOSE: Despite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing may be limited in clinical practice. The objective of this study was to assess worldwide access to genetic tests for movement disorders and factors impacting their utilization. METHODS: The Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society designed an online survey electronically mailed to all 7815 members. RESULTS: Survey data completed by 1269 participants from 109 countries were analysed. Limited access to geneticists and genetic counsellors was reported in many world regions compared to Europe and North America. Availability of genetic testing was limited, with rates of access lower than 50%. Genetic testing for chorea was the most commonly available. For parkinsonism, dystonia, ataxia, hereditary spastic paraplegias and metabolic disorders, there was limited access to genetic testing in all countries compared to Europe and North America, with significant differences found for Africa, Central/South America, Asia. In many regions, genetic testing was supported by either private or public funding. Genetic testing was free of charge in Europe according to 63.5% of respondents. In North America, Africa, Central/South America, Asia and the Middle East access to free of charge genetic testing was by far significantly lower compared to Europe. CONCLUSIONS: This survey highlights difficulties in accessing genetic testing and individuals with expertise in genetics at the worldwide level. In addition, major disparities in genetic testing amongst world regions are highlighted, probably due to a variety of factors including financial barriers.


Asunto(s)
Trastornos del Movimiento , Asia , Europa (Continente) , Pruebas Genéticas , Humanos , Medio Oriente , Trastornos del Movimiento/genética
4.
Am J Med Genet C Semin Med Genet ; 184(4): 1030-1041, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-33274544

RESUMEN

We describe our experiences with organizing pro bono medical genetics and neurology outreach programs on several different resource-limited islands in the West Indies. Due to geographic isolation, small population sizes, and socioeconomic disparities, most Caribbean islands lack medical services for managing, diagnosing, and counseling individuals with genetic disorders. From 2015 to 2019, we organized 2-3 clinics per year on various islands in the Caribbean. We also organized a week-long clinic to provide evaluations for children suspected of having autism spectrum disorder. Consultations for over 100 different individuals with suspected genetic disorders were performed in clinics or during home visits following referral by locally registered physicians. When possible, follow-up visits were attempted. When available and appropriate, clinical samples were shipped to collaborating laboratories for molecular analysis. Laboratory tests included karyotyping, cytogenomic microarray analysis, exome sequencing, triplet repeat expansion testing, blood amino acid level determination, biochemical assaying, and metabolomic profiling. We believe that significant contributions to healthcare by genetics professionals can be made even if availability is limited. Visiting geneticists may help by providing continuing medical education seminars. Clinical teaching rounds help to inform local physicians regarding the management of genetic disorders with the aim of generating awareness of genetic conditions. Even when only periodically available, a visiting geneticist may benefit affected individuals, their families, their local physicians, and the community at large.


Asunto(s)
Trastorno del Espectro Autista , Médicos , Niño , Atención a la Salud , Humanos , Derivación y Consulta , Indias Occidentales
5.
Artículo en Inglés | MEDLINE | ID: mdl-32832197

RESUMEN

Background: Movement disorders are often a prominent part of the phenotype of many neurologic rare diseases. In order to promote awareness and diagnosis of these rare diseases, the International Parkinson's and Movement Disorders Society Rare Movement Disorders Study Group provides updates on rare movement disorders. Methods: In this narrative review, we discuss the differential diagnosis of the rare disorders that can cause chorea. Results: Although the most common causes of chorea are hereditary, it is critical to identify acquired or symptomatic choreas since these are potentially treatable conditions. Disorders of metabolism and mitochondrial cytopathies can also be associated with chorea. Discussion: The present review discusses clues to the diagnosis of chorea of various etiologies. Authors propose algorithms to help the clinician in the diagnosis of these rare disorders.


Asunto(s)
Corea , Trastornos del Movimiento , Edad de Inicio , Corea/diagnóstico , Corea/etiología , Corea/genética , Humanos , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/etiología , Trastornos del Movimiento/genética , Enfermedades Raras
6.
Artículo en Inglés | MEDLINE | ID: mdl-31565539

RESUMEN

Background: Dystonia is a relatively common feature of spinocerebellar ataxia 3 (SCA3). Childhood onset of SCA3 is rare and typically associated with either relatively large, or homozygous, CAG repeat expansions. Case report: We describe a 10-year-old girl with SCA3, who presented with tongue dystonia in addition to limb dystonia and gait ataxia due to a heterozygous expansion of 84 repeats in ATXN3. Discussion: Diagnosis of the SCAs can be challenging, and even more so in children. Tongue dystonia has not previously been documented in SCA3.


Asunto(s)
Distonía/fisiopatología , Trastornos Neurológicos de la Marcha/fisiopatología , Enfermedad de Machado-Joseph/fisiopatología , Lengua/fisiopatología , Edad de Inicio , Ataxina-3/genética , Niño , Distonía/etiología , Femenino , Trastornos Neurológicos de la Marcha/etiología , Humanos , Enfermedad de Machado-Joseph/complicaciones , Enfermedad de Machado-Joseph/genética , Proteínas Represoras/genética , Expansión de Repetición de Trinucleótido/genética
8.
Artículo en Inglés | MEDLINE | ID: mdl-30191086

RESUMEN

Background: Access to medical care in many regions is limited by socioeconomic status, at both the individual and the community level. This report describes the diagnostic process of a family residing on an underserved Caribbean island where routine neurological care is typically addressed by general practitioners, and genetic diagnosis is not available through regular medical channels. The diagnosis and management of neurodegenerative disorders is especially challenging in this setting. Case Report: We diagnosed a family with spinocerebellar ataxia type 3 (SCA3) in an underdeveloped nation with limited access to genetic medicine and no full-time neurologist. Discussion: Molecular diagnosis of the SCAs can be challenging, even in developed countries. In the Caribbean, genetic testing is generally only available at a small number of academic centers. Diagnosis in this family was ultimately made by utilizing an international, pro bono, research-based collaborative process. Although access to appropriate resources, such as speech, physical, and occupational therapies, is limited on this island because of economic and geographical factors, the provision of a diagnosis appeared to be ultimately beneficial for this family. Identification of affected families highlights the need for access to genetic diagnosis in all communities, and can help direct resources where needed.


Asunto(s)
Manejo de la Enfermedad , Salud de la Familia , Ataxias Espinocerebelosas/diagnóstico , Adulto , Ataxina-3/genética , Femenino , Pruebas Genéticas , Humanos , Persona de Mediana Edad , Proteínas Represoras/genética , Ataxias Espinocerebelosas/complicaciones , Ataxias Espinocerebelosas/genética , Ataxias Espinocerebelosas/terapia , Expansión de Repetición de Trinucleótido/genética , Indias Occidentales
10.
Parasitology ; 145(6): 797-806, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29113595

RESUMEN

Urban slums provide suitable conditions for infestation by rats, which harbour and shed a wide diversity of zoonotic pathogens including helminths. We aimed to identify risk factors associated with the probability and intensity of infection of helminths of the digestive tract in an urban slum population of Rattus norvegicus. Among 299 rats, eleven species/groups of helminths were identified, of which Strongyloides sp., Nippostrongylus brasiliensis and, the human pathogen, Angiostrongylus cantonensis were the most frequent (97, 41 and 39%, respectively). Sex interactions highlighted behavioural differences between males and females, as eg males were more likely to be infected with N. brasiliensis where rat signs were present, and males presented more intense infections of Strongyloides sp. Moreover, rats in poor body condition had higher intensities of N. brasiliensis. We describe a high global richness of parasites in R. norvegicus, including five species known to cause disease in humans. Among these, A. cantonensis was found in high prevalence and it was ubiquitous in the study area - knowledge which is of public health importance. A variety of environmental, demographic and body condition variables were associated with helminth species infection of rats, suggesting a comparable variety of risk factors for humans.


Asunto(s)
Helmintiasis Animal/epidemiología , Áreas de Pobreza , Ratas/parasitología , Enfermedades de los Roedores/epidemiología , Zoonosis/epidemiología , Angiostrongylus cantonensis/aislamiento & purificación , Animales , Brasil/epidemiología , Femenino , Helmintiasis Animal/parasitología , Helmintiasis Animal/transmisión , Humanos , Masculino , Salud Pública , Factores de Riesgo , Enfermedades de los Roedores/parasitología , Enfermedades de los Roedores/transmisión , Remodelación Urbana , Zoonosis/parasitología , Zoonosis/transmisión
11.
J Clin Mov Disord ; 2: 2, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26788338

RESUMEN

Sydenham's chorea is often regarded as a relatively benign and self-limiting condition. Treatment is typically symptomatic, although occasionally immunomodulatory therapies are required in severe forms. Here we report a girl who was affected with the severe variant, chorea paralytica, who responded dramatically and rapidly to plasmapheresis, having failed other therapies.

12.
Arq Neuropsiquiatr ; 69(3): 419-23, 2011 06.
Artículo en Inglés | MEDLINE | ID: mdl-21755114

RESUMEN

Huntington's disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical HD phenotype without the expected mutation. The objective of this study was to assess the occurrence of diseases such as Huntington's disease-like 2 (HDL2), spinocerebellar ataxia (SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and chorea-acanthocytosis (ChAc) among 29 Brazilian patients with a HD-like phenotype. In the group analyzed, we found 3 patients with HDL2 and 2 patients with ChAc. The diagnosis was not reached in 79.3% of the patients. HDL2 was the main cause of the HD-like phenotype in the group analyzed, and is attributable to the African ancestry of this population. However, the etiology of the disease remains undetermined in the majority of the HD negative patients with HD-like phenotype.


Asunto(s)
Enfermedad de Huntington/diagnóstico , Epilepsias Mioclónicas Progresivas/diagnóstico , Neuroacantocitosis/diagnóstico , Ataxias Espinocerebelosas/diagnóstico , Expansión de Repetición de Trinucleótido/genética , Adulto , Estudios Transversales , Femenino , Humanos , Enfermedad de Huntington/genética , Masculino , Epilepsias Mioclónicas Progresivas/genética , Neuroacantocitosis/genética , Fenotipo , Ataxias Espinocerebelosas/genética
13.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;69(3): 419-423, June 2011. tab
Artículo en Inglés | LILACS | ID: lil-592495

RESUMEN

Huntington's disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical HD phenotype without the expected mutation. The objective of this study was to assess the occurrence of diseases such as Huntington's disease-like 2 (HDL2), spinocerebellar ataxia (SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and chorea-acanthocytosis (ChAc) among 29 Brazilian patients with a HD-like phenotype. In the group analyzed, we found 3 patients with HDL2 and 2 patients with ChAc. The diagnosis was not reached in 79.3 percent of the patients. HDL2 was the main cause of the HD-like phenotype in the group analyzed, and is attributable to the African ancestry of this population. However, the etiology of the disease remains undetermined in the majority of the HD negative patients with HD-like phenotype.


A doença de Huntington (DH) é uma doença neurodegenerativa caracterizada por coréia, alterações comportamentais e demência, causada por uma expansão patológica do trinucleotídeo CAG no gene HTT. Vários pacientes têm sido descritos com o fenótipo típico para a DH porém sem a mutação esperada. O objetivo deste estudo foi avaliar a ocorrência de doenças como doença de Huntington-símile 2 (DHS-2), ataxias espinocerebelares tipo 1, 2, 3 e 17, atrofia dentatorubral-palidoluisiana e coreo-acantocitose (CAc) entre 29 pacientes brasileiros com fenótipo doença de Huntington-símile. No grupo analisado, encontramos 3 pacientes com DHS-2 e 2 pacientes com CAc. O diagnóstico permaneceu obscuro em 79,3 por cento dos pacientes. DHS-2 foi a principal causa do fenótipo DH-símile no grupo analisado, provavelmente devido a ancestralidade africana na população brasileira. Entretanto, a etiologia permaneceu indeterminada na maioria dos pacientes avaliados.


Asunto(s)
Adulto , Femenino , Humanos , Masculino , Enfermedad de Huntington/diagnóstico , Epilepsias Mioclónicas Progresivas/diagnóstico , Neuroacantocitosis/diagnóstico , Ataxias Espinocerebelosas/diagnóstico , Expansión de Repetición de Trinucleótido/genética , Estudios Transversales , Enfermedad de Huntington/genética , Epilepsias Mioclónicas Progresivas/genética , Neuroacantocitosis/genética , Fenotipo , Ataxias Espinocerebelosas/genética
14.
Mov Disord ; 23(14): 2090-3, 2008 Oct 30.
Artículo en Inglés | MEDLINE | ID: mdl-18785241

RESUMEN

Chorea-acanthocytosis (ChAc) is a neurodegenerative disorder characterized by chorea, neuropsychiatric disturbances and acanthocytosis, caused by mutations of VPS13A. This gene produces the protein chorein which is absent in patients with ChAc on Western blot assay. We report the first two Brazilian patients with ChAc confirmed by chorein detection. Patient 1 is a 36-year-old man with chorea, epilepsy, myopathy, and suicidal ideation. Patient 2 is a 60-year-old woman with a 30 year history of psychiatric disturbances, epilepsy, choreic movements, and myopathy. Both patients had acanthocytosis, elevated creatine kinase (CK), and absence of chorein on Western blot analysis. The presence of chorea and neuropsychiatric disturbances associated with elevated CK levels, epilepsy, hyporeflexia, and acanthocytosis suggests the diagnosis of ChAc. Chorein assay of peripheral blood confirms the diagnosis.


Asunto(s)
Acantocitos/patología , Corea/complicaciones , Adulto , Brasil , Corea/patología , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Proteínas de Transporte Vesicular/metabolismo
15.
Mov Disord ; 23(15): 2244-7, 2008 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-18816802

RESUMEN

Huntington's disease-like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD-like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent.


Asunto(s)
Enfermedad de Huntington/genética , Proteínas de la Membrana/genética , Expansión de Repetición de Trinucleótido/genética , Adulto , Brasil , Análisis Mutacional de ADN , Exones/genética , Femenino , Humanos , Enfermedad de Huntington/patología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Adulto Joven
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