Neuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in Colombia
La leucodistrofia metacromática (MLD) es una patología crónica de baja prevalencia y baja incidencia a nivel mundial, se caracteriza por presentar alteraciones en la sustancia blanca del sistema nervioso central (SNC), resultado de una deficiencia de la Arilsulfatasa A (ARSA). enzima que se encarga...
- Autores:
-
Hurtado González, Carlos Alberto
Cordoba, A.
Alvear, L.
Ramos, G. E.
CINEPSIS
SEMINEC
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2019
- Institución:
- Universidad Cooperativa de Colombia
- Repositorio:
- Repositorio UCC
- Idioma:
- OAI Identifier:
- oai:repository.ucc.edu.co:20.500.12494/33682
- Acceso en línea:
- https://hdl.handle.net/20.500.12494/33682
- Palabra clave:
- Atención
Funcionamiento neurocognitivo
Funciones ejecutivas
Memoria
Leucodistrofia metacromática
Attention
Neurocognitive Functioning
Executive Functions
Memory
Metachromatic Leukodystrophy
- Rights
- closedAccess
- License
- NINGUNA
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Neuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in Colombia |
| title |
Neuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in Colombia |
| spellingShingle |
Neuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in Colombia Atención Funcionamiento neurocognitivo Funciones ejecutivas Memoria Leucodistrofia metacromática Attention Neurocognitive Functioning Executive Functions Memory Metachromatic Leukodystrophy |
| title_short |
Neuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in Colombia |
| title_full |
Neuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in Colombia |
| title_fullStr |
Neuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in Colombia |
| title_full_unstemmed |
Neuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in Colombia |
| title_sort |
Neuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in Colombia |
| dc.creator.fl_str_mv |
Hurtado González, Carlos Alberto Cordoba, A. Alvear, L. Ramos, G. E. CINEPSIS SEMINEC |
| dc.contributor.author.none.fl_str_mv |
Hurtado González, Carlos Alberto Cordoba, A. Alvear, L. Ramos, G. E. CINEPSIS SEMINEC |
| dc.subject.spa.fl_str_mv |
Atención Funcionamiento neurocognitivo Funciones ejecutivas Memoria Leucodistrofia metacromática |
| topic |
Atención Funcionamiento neurocognitivo Funciones ejecutivas Memoria Leucodistrofia metacromática Attention Neurocognitive Functioning Executive Functions Memory Metachromatic Leukodystrophy |
| dc.subject.other.spa.fl_str_mv |
Attention Neurocognitive Functioning Executive Functions Memory Metachromatic Leukodystrophy |
| description |
La leucodistrofia metacromática (MLD) es una patología crónica de baja prevalencia y baja incidencia a nivel mundial, se caracteriza por presentar alteraciones en la sustancia blanca del sistema nervioso central (SNC), resultado de una deficiencia de la Arilsulfatasa A (ARSA). enzima que se encarga de catalizar diferentes reacciones químicas en todo el organismo. Se ha encontrado que la MLD está clínicamente relacionada con una deficiencia del funcionamiento neurocognitivo, especialmente en tareas de memoria (memoria operativa) y en funciones ejecutivas (fluidez verbal semántica, inhibición, planificación y control de la conducta inmediata). Objetivo: Identificar el deterioro neurocognitivo y los síntomas neuropsiquiátricos en un paciente diagnosticado de MLD. Reporte de caso de baja prevalencia e incidencia en Colombia. Metodología: Participante: Paciente de sexo femenino de 60 años, soltera, diestra y docente con pérdida progresiva de la memoria reciente, acompañada de inestabilidad postural, alteración de la marcha, problemas de equilibrio y alteraciones moderadas a severas de tipo neurocognitivo y afectivo. Resultados: Se encontró que la paciente presenta alteraciones ejecutivas (lóbulo frontal) en la toma de decisiones, planificación, inhibición y en la memoria operativa, correlacionadas con una alteración severa en sus actividades básicas, instrumentales y avanzadas de la vida diaria. Conclusión: Es necesario realizar planes funcionales de neurorrehabilitación para personas diagnosticadas de LDM, teniendo como principal objetivo la mejora de su calidad de vida en los aspectos individual, social y familiar. |
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2019 |
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2019-09 |
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2021-03-19T20:21:19Z |
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2021-03-19T20:21:19Z |
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Artículos Científicos |
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Cordoba, A., Alvear L., Hurtado-González, C. A., Ramos, G., CINEPSIS y SEMINEC. Neuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in Colombia. Biomedical Research 2020; 30 (6), 858-863 |
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09070-938X Cordoba, A., Alvear L., Hurtado-González, C. A., Ramos, G., CINEPSIS y SEMINEC. Neuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in Colombia. Biomedical Research 2020; 30 (6), 858-863 |
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https://www.alliedacademies.org/articles/neuropsychiatric-symptoms-in-a-patient-diagnosed-in-adulthood-withmetachromatic-leukodystrophy-case-report-of-low-incidence-and-pr-11602.html |
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Biomedical Research |
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Babcock, H. An experiment in the measurement of mental deterioration. Arch Psychol 1930; 117: 105 Beck A, Steer R. Manual BAI. Inventario de Ansiedad de Beck. 2011. Cacho J, García-García R, Arcaya J, Vicente JL, Lantada N. Una propuesta de aplicación del test del reloj en la enfermedad de Alzheimer. Revista de Neurología 1999; 28: 648-655. Cummings JL, Victoroff JL. Noncognitive neuropsychiatric syndromes in Alzheimer's disease. Neuropsychiatry Neuropsychol Behav Neurol 1990; 3: 140-158 Dubois B, Slachevsky A, Litvan I, Pillon BF. The FAB A frontal assessment battery at bedside. Neurology 2000; 55: 1621-1626. Hara K, Shiga A, Fukutake T, Nozaki H, Miyashita A, Yokoseki A, Kawata H, Koyama A, Arima K, Takahashi T, Ikeda M. Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease. N Engl J Med 2009; 360: 1729-139. Lawton MP, Brody EM, Saperstein AR. A controlled study of respite service for caregivers of Alzheimer's patients. Gerontologist 1989; 29: 8-16 Lobo A, Pérez-Echeverría MJ, Artal J. Validity of the scaled version of the General Health Questionnaire (GHQ-28) in a Spanish population. Psychol Med 1986; 16: 135-140. Lobo A, Saz P, Marcos G. Mini-Mental Status Examination. Rev Esp Med Legal 2011; 37: 122-127. Mahoney F. Funcionales de evaluación: El índice de Barthel. Del Estado de Maryl Med J 1965; 14: 51-65 Nasreddine ZS, Phillips NA, Badirian V, Charbonneau S, Whitehead V, Collin I, Cummings JL, Chertkow H. The Montreal Cognitive Assessment, MoCA: A brief screening tool for mild cognitive impairment. J Am Geriatr Soc 2005; 53: 695-699. Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nature Genetics. 2012; 44: 200-205 Reitan, Ralph M. Trail Making Test: Manual for administration and scoring. Reitan Neuropsychology Laboratory 1992. Shapiro EG, Lipton ME, Krivit W. White matter dysfunction and its neuropsychological correlates: a longitudinal study of a case of metachromatic leukodystrophy treated with bone marrow transplant. J Clin Exp Neuropsychol 1992; 14: 610-624. Smith NJ, Marcus RE, Sahakian BJ, Kapur N, Cox TM. Haematopoietic stem cell transplantation does not retard disease progression in the psycho-cognitive variant of late-onset metachromatic leukodystrophy. J Inherit Metab Dis 2010; 33: 471-475 Stroobants S, Leroy T, Eckhardt M, Aerts JM, Berckmans D, D?Hooge R. Early signs of neurolipidosis-related behavioural alterations in a murine model of metachromatic leukodystrophy. Behav Brain Res 2008: 189; 306-316. Weschsler D. Weschsler Memory Scale. The Psychological Corporation. 1972. Yesavage JA, Sheikh JI. 9/Geriatric depression scale (GDS) recent evidence and development of a shorter version. Clin Gerontol 1986; 5: 165-173. |
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Hurtado González, Carlos AlbertoCordoba, A.Alvear, L.Ramos, G. E.CINEPSISSEMINEC30 (6)2021-03-19T20:21:19Z2021-03-19T20:21:19Z2019-0909070-938Xhttps://hdl.handle.net/20.500.12494/33682Cordoba, A., Alvear L., Hurtado-González, C. A., Ramos, G., CINEPSIS y SEMINEC. Neuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in Colombia. Biomedical Research 2020; 30 (6), 858-863La leucodistrofia metacromática (MLD) es una patología crónica de baja prevalencia y baja incidencia a nivel mundial, se caracteriza por presentar alteraciones en la sustancia blanca del sistema nervioso central (SNC), resultado de una deficiencia de la Arilsulfatasa A (ARSA). enzima que se encarga de catalizar diferentes reacciones químicas en todo el organismo. Se ha encontrado que la MLD está clínicamente relacionada con una deficiencia del funcionamiento neurocognitivo, especialmente en tareas de memoria (memoria operativa) y en funciones ejecutivas (fluidez verbal semántica, inhibición, planificación y control de la conducta inmediata). Objetivo: Identificar el deterioro neurocognitivo y los síntomas neuropsiquiátricos en un paciente diagnosticado de MLD. Reporte de caso de baja prevalencia e incidencia en Colombia. Metodología: Participante: Paciente de sexo femenino de 60 años, soltera, diestra y docente con pérdida progresiva de la memoria reciente, acompañada de inestabilidad postural, alteración de la marcha, problemas de equilibrio y alteraciones moderadas a severas de tipo neurocognitivo y afectivo. Resultados: Se encontró que la paciente presenta alteraciones ejecutivas (lóbulo frontal) en la toma de decisiones, planificación, inhibición y en la memoria operativa, correlacionadas con una alteración severa en sus actividades básicas, instrumentales y avanzadas de la vida diaria. Conclusión: Es necesario realizar planes funcionales de neurorrehabilitación para personas diagnosticadas de LDM, teniendo como principal objetivo la mejora de su calidad de vida en los aspectos individual, social y familiar.The metachromatic leukodystrophy (MLD) is a chronic pathology of low prevalence and low worldwide incidence, it is characterized by presenting alterations in the white substance of the central nervous system (CNS), result of a deficiency of the Arylsulfatase A (ARSA) enzyme which is responsible for catalyzing different chemical reactions throughout the organism. It is been found that MLD is clinically related to a deficiency of the neurocognitive functioning, especially in memory tasks (operative memory) and in executive functions (verbal semantic fluency, inhibition, planning and control of the immediate conduct). Objective: Identify the neurocognitive impairment and the neuropsychiatric symptoms in a patient diagnosed with MLD. Case report of low prevalence and incidence in Colombia. Methodology: Participant: Sixty aged female patient, single, right handed person and a teacher with a progressive loss of recent memory, accompanied with postural instability, gait disturbance, balance problems and moderate to severe alterations of neurocognitive and affective type. Results: It is been found that the patient presents executive alterations (frontal lobe) in decisionmaking, planning, inhibition and in operative memory, correlated to a severe alteration in her basic, instrumental and advanced activities of daily life. Conclusion: It is necessary to make neuro-rehabilitation functional plans for people diagnosed with MLD, having as a main objective the improvement of their quality of life in individual, social and family aspects.carlos.hurtadog@campusucc.edu.co858-863Universidad Cooperativa de Colombia, Facultad de Ciencias Sociales, Psicología, CaliPsicologíaCalihttps://www.alliedacademies.org/articles/neuropsychiatric-symptoms-in-a-patient-diagnosed-in-adulthood-withmetachromatic-leukodystrophy-case-report-of-low-incidence-and-pr-11602.htmlBiomedical ResearchBabcock, H. An experiment in the measurement of mental deterioration. Arch Psychol 1930; 117: 105Beck A, Steer R. Manual BAI. Inventario de Ansiedad de Beck. 2011.Cacho J, García-García R, Arcaya J, Vicente JL, Lantada N. Una propuesta de aplicación del test del reloj en la enfermedad de Alzheimer. Revista de Neurología 1999; 28: 648-655.Cummings JL, Victoroff JL. Noncognitive neuropsychiatric syndromes in Alzheimer's disease. Neuropsychiatry Neuropsychol Behav Neurol 1990; 3: 140-158Dubois B, Slachevsky A, Litvan I, Pillon BF. The FAB A frontal assessment battery at bedside. Neurology 2000; 55: 1621-1626.Hara K, Shiga A, Fukutake T, Nozaki H, Miyashita A, Yokoseki A, Kawata H, Koyama A, Arima K, Takahashi T, Ikeda M. Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease. N Engl J Med 2009; 360: 1729-139.Lawton MP, Brody EM, Saperstein AR. A controlled study of respite service for caregivers of Alzheimer's patients. Gerontologist 1989; 29: 8-16Lobo A, Pérez-Echeverría MJ, Artal J. Validity of the scaled version of the General Health Questionnaire (GHQ-28) in a Spanish population. Psychol Med 1986; 16: 135-140.Lobo A, Saz P, Marcos G. Mini-Mental Status Examination. Rev Esp Med Legal 2011; 37: 122-127.Mahoney F. Funcionales de evaluación: El índice de Barthel. Del Estado de Maryl Med J 1965; 14: 51-65Nasreddine ZS, Phillips NA, Badirian V, Charbonneau S, Whitehead V, Collin I, Cummings JL, Chertkow H. The Montreal Cognitive Assessment, MoCA: A brief screening tool for mild cognitive impairment. J Am Geriatr Soc 2005; 53: 695-699.Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nature Genetics. 2012; 44: 200-205Reitan, Ralph M. Trail Making Test: Manual for administration and scoring. Reitan Neuropsychology Laboratory 1992.Shapiro EG, Lipton ME, Krivit W. White matter dysfunction and its neuropsychological correlates: a longitudinal study of a case of metachromatic leukodystrophy treated with bone marrow transplant. J Clin Exp Neuropsychol 1992; 14: 610-624.Smith NJ, Marcus RE, Sahakian BJ, Kapur N, Cox TM. Haematopoietic stem cell transplantation does not retard disease progression in the psycho-cognitive variant of late-onset metachromatic leukodystrophy. J Inherit Metab Dis 2010; 33: 471-475Stroobants S, Leroy T, Eckhardt M, Aerts JM, Berckmans D, D?Hooge R. Early signs of neurolipidosis-related behavioural alterations in a murine model of metachromatic leukodystrophy. Behav Brain Res 2008: 189; 306-316.Weschsler D. Weschsler Memory Scale. The Psychological Corporation. 1972.Yesavage JA, Sheikh JI. 9/Geriatric depression scale (GDS) recent evidence and development of a shorter version. Clin Gerontol 1986; 5: 165-173.AtenciónFuncionamiento neurocognitivoFunciones ejecutivasMemoriaLeucodistrofia metacromáticaAttentionNeurocognitive FunctioningExecutive FunctionsMemoryMetachromatic LeukodystrophyNeuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in ColombiaArtículos Científicosinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_2df8fbb1http://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleNINGUNAinfo:eu-repo/semantics/closedAccesshttp://purl.org/coar/access_right/c_14cbPublicationORIGINAL2019_Neuropsychiatric_symptoms.pdf2019_Neuropsychiatric_symptoms.pdfArtículoapplication/pdf943929https://repository.ucc.edu.co/bitstreams/3597a46e-07a1-4c3d-9710-80e28f6a52a3/download8f404167f7784e4f60f56b9888b0d783MD51LICENSElicense.txtlicense.txttext/plain; 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