Huntington juvenil y fenocopia intrafamiliar a propósito de dos casos / Juvenile Huntington and intrafamily phenocopy, about two cases

RESUMEN La enfermedad de Huntington (EH) es una enfermedad neurodegenerativa hereditaria de progresión irremediablemente fatal. Existen otros trastornos con síntomas semejantes a los de esta enfermedad y que son llamados fenocopias. En nuestro reporte, se presentan los casos de dos hermanos con fenotipo compatible con EH, uno ellos con una fenocopia intrafamiliar, caracterizada por un síndrome coreico y cambios del comportamiento, con estudio genético negativo para EH. El caso índice cursa con una forma parkinsoniana de EH de inicio juvenil, con evolución lentamente progresiva que, además, presenta síntomas neuropsiquiátricos, con respuesta mínima a tratamiento sintomático con psicofármacos. El hermano mayor, caso de fenocopia intrafamiliar, cursó con movimientos discinéticos cervicofaciales y faciales severos, psicosis y cognición conservada. En conclusión, las fenocopias de EH pueden presentarse incluso dentro de una familia con EH genéticamente confirmada. Se recomienda una detallada evaluación neurológica y un estudio genético apropiado en todos los casos en que se tenga sospecha clínica de EH, incluso en familiares directos de pacientes diagnosticados con la enfermedad.

ABSTRACT Huntington's disease (HD) is an inherited neurodegenerative disorder with an always fatal outcome. Other disorders resemble the symptoms of this disease and are called phenocopies. The cases of two brothers in a family affected with a phenotype compatible with HD, are presented, one of them an intrafamilial phenocopy, characterized by choreic syndrome, abnormal behavior, and negative HD genetic testing. The index case evolves with a juvenile-onset slowly progressive parkinsonian form of HD that, in addition, presents neuropsychiatric symptoms with minimal response to symptomatic treatment with dopamine antagonists. The older brother, the intrafamilial phenocopy, experienced severe facial cervicofacial and cervical dyskinetic movements, psychosis, and preserved cognition. In conclusion, the HD phenocopies might occur even within a known, genetically confirmed HD family. It is recommended to perform a detailed neurological examination together with appropriate genetic testing in all cases with clinical suspicious of HD, including direct family members of HD affected individuals.

Frecuencia De Casos Juveniles Con Enfermedad De Huntington En Población Mexicana / Frequency Of Juvenile Huntington´S Disease In A Mexican Population

Resumen Objetivo: El propósito de este estudio es determinar la prevalencia de casos juveniles en una muestra de sujetos mexicanos con enfermedad de Huntington (EH) confirmada molecularmente. Métodos: Se incluyeron pacientes con inicio clínico antes de los 21 años de edad que acudieron a la clínica de trastornos del movimiento del Instituto Nacional de Neurología y Neurocirugía. La información demográfica y clínica se obtuvo de la revisión de expedientes. Resultados: Se revisaron un total de 198 casos de pacientes con diagnóstico de EH, de los cuales el 6.5% (n=13) correspondió a formas juveniles. La media de edad para el inicio de síntomas fue de 17.8 ± 3.9 años. La puntuación media del UHDRS-motor fue de 46.2 ± 17.4 puntos. El síntoma motor predominante fue corea en el 53.8% de los casos. El 84.6% de los afectados presentó al menos una alteración neuropsiquiátrica. Conclusión: Se detectó que el fenotipo motor de estos pacientes fue dominantemente corea, contrario a lo reportado mundialmente hasta ahora, es decir, nuestro grupo presentó clínica motora atípica de EHJ.

Abstract Objective: The purpose of this study is to know the prevalence of juvenile cases in a sample of mexican subjects with confirmed Huntington Disease (HD). Methods: Patients with clinical debut before 21 years of age were included who attended at movement disorders clinic of the National Institute of Neurology and Neurosurgery. The demographic and clinical information was obtained from the review of files. Results: A total of 198 cases of patients diagnosed with HD were reviewed, of which 6.5% (n = .13) corresponded to juvenile forms. The mean age for the onset of symptoms was 17.8 ± 3.9 years. The mean score of the UHDRS-motor was 46.2 ± 17.4 points. The predominant motor symptom was chorea in (53.8%) of the cases. 84.6% of those affected presented at least one neuropsychiatric disorder. Conclusion: It was detected that the dominant motor phenotype of these patients was chorea compared to the world reports until now, accordingly to that, our group of juvenile HD shows atypical motor clinical.

THE PROJECTION FROM EDINGER-WESTPHAL NUCLEUS TO THE SPINAL CORD IN THE RABBIT——HRP METHOD / 解剖学报

The projection from Edinger-Westphal (E—W) nucleus to the spinal cord was studied in fifteen rabbits by injecting HRP or WGA—HRP into the cervical, thoracic and lumbar segments of the spinal cord. The normal cytoarchitecture of E—W nucleus was also studied with normal Nissl stained sections.The E—W nucleus of the rabbit is a midline unpaired structure except for the most rostral part which is paired. The shape of the whole nucleus looks like a band with its long axis lying rostrocaudally. It is mainly consisted of medium and small fusiform neurons with their long axis lying dorsoventrally. Neurons of the rostral part of the E—W nucleus, which is called the anterior median nucleus in this paper, are longer and darker than those of the caudal part of the E—W nucleus, or the proper E—W nucleus.Many labelled cells were found in AM and E—W nuclei in all the injected cases. The neurons, projecting to the cervical, thoracic and lumbar segments, were distributed diffusely in E—W nucleus without evident somatotopic organization. In the lumbar injected cases, there were a few labelled cells in the rostral end of AM nucleus where the nucleus was divided into two parts bilaterally.

DESCENDING PROJECTIONS OF SUBSTANCE P-AND CHOLECYSTOKININ-CONTAINING NEURONS OF THE PERIAQUEDUCTAL GRAY AND EDINGER-WESTPHAL NUCLEUS TO THE SPINAL CORD——A STUDY WITH THE COMBINING METHOD OF TRACING WITH IMMUNOCYTOCHEMISTRY / 解剖学报

Projections from substance P (SP)-and cholecystokinin (CCK) containing neurons in the periaqueductal gray(PAG)and Edinger-Westphal(E-W)nucleus to the spinal cord were studied by means of the combining method of HRP tracing with immunocytochemistry in rats. The results showed that a few neurons in the ventrolateral region of PAG projected bilaterally to the cervical, thoracic and lumbar segments of the spinal cord, with the predominant projections from the ipsilateral side. The authors reported that these descending projection neurons showed SP-like immunoreactivity for the first time(account for 48%). The neurons of E-W nucleus projected diffusely to all segments of the spinal cord contained SP (70%) or CCK (73%) respectively, suggesting that at least a part of E-W neurons projecting to the spinal cord contain both SP and CCK.