[X-linked recessive ichthyosis (XRI), cerebellar ataxia and neuropsychiatric symptoms]. / X-chromosomal-rezessive Ichthyose (XRI) mit zerebellärer Ataxie, Angsterkrankung und Depression.
Fortschr Neurol Psychiatr
; 81(1): 40-3, 2013 Jan.
Article
en De
| MEDLINE
| ID: mdl-23340970
ABSTRACT
X-Linked ichthyosis (XRI) is a keratinisation disorder caused by a mutation of the steroid sulfatase gene. An association with mental retardation and epilepsy has been reported earlier. Here, we report on a patient suffering from cerebellar symptoms such as yes/yes head tremor, scanning dysarthria, pronounced dysmetria and intention tremor, without any abnormalities of the cerebellum in MRI, in addition to XRI proven by molecular genetics. Furthermore, the patient suffered from anxiety disorder, depression, and a male pattern baldness. One of the patient' s brothers and a nephew showed a similar clinical presentation. Because of the fact that several members of the patient's family suffered from similar symptoms, we consider a syndromic link between XRI and cerebellar disorder to be possible.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ataxia Cerebelosa
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Ictiosis Ligada al Cromosoma X
/
Trastornos Mentales
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Humans
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Male
/
Middle aged
Idioma:
De
Revista:
Fortschr Neurol Psychiatr
Año:
2013
Tipo del documento:
Article