TY - JOUR
T1 - Huntington juvenil y fenocopia intrafamiliar a propósito de dos casos
AU - Silva-Bullón, Midiam
AU - Toledo-Pacheco, Brylianna
AU - Illanes-Manrique, Maryenela
AU - Cubas-Montecino, Diana
AU - Cornejo-Olivas, Mario
N1 - Publisher Copyright:
© 2023 The Author(s).
PY - 2023/4
Y1 - 2023/4
N2 - 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.
AB - 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.
KW - Huntington’s disease
KW - Juvenile Huntington’s disease
KW - Peru
KW - Westphal variant
KW - phenocopy
UR - http://www.scopus.com/inward/record.url?scp=85176896028&partnerID=8YFLogxK
U2 - 10.20453/rnp.v86i3.4560
DO - 10.20453/rnp.v86i3.4560
M3 - Artículo
AN - SCOPUS:85176896028
SN - 0034-8597
VL - 86
SP - 132
EP - 137
JO - Revista de Neuro-Psiquiatria
JF - Revista de Neuro-Psiquiatria
IS - 2
ER -