Ramsay Hunt syndrome: New impressions in the era of molecular genetics.
Parkinsonism Relat Disord
; 97: 101-104, 2022 04.
Article
en En
| MEDLINE
| ID: mdl-35430109
ABSTRACT
More frequent use of next-generation sequencing led to a paradigm shift in assessing heredodegenerative diseases. This is particularly notable in progressive myoclonus epilepsy (PME) and progressive myoclonus ataxia (PMA) where a group of disorders linked to novel genetic mutations has now been added to these phenotypical realms. Despite the historical value of Ramsay Hunt's contribution defining the syndrome later known as PMA, recent genetic developments have made this eponym obsolete and a new definition and classification of PMA and PME seem necessary. A rational possibility is to adopt the wider term progressive myoclonus ataxia and epilepsy syndrome (PMAES), which can be subdivided into its main subtypes, PME and PMA, whenever clinical data is sufficient to make that distinction.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Disinergia Cerebelosa Mioclónica
/
Degeneraciones Espinocerebelosas
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Ataxia Cerebelosa
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Herpes Zóster Ótico
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Mioclonía
Límite:
Humans
Idioma:
En
Revista:
Parkinsonism Relat Disord
Asunto de la revista:
NEUROLOGIA
Año:
2022
Tipo del documento:
Article