Eine Allgäuer Familie mit Parkinsonoid, Demenz und Pyramidenbahnzeichen

Zusammenfassung

Anliegen Beschreibung einer Familie mit Parkinsonoid und Demenz. Methode Familienstudie. Ergebnisse Zwei Cousins leiden an einem Syndrom aus unilateral betontem Parkinsonoid mit Pyramidenbahnzeichen. Bei einem dritten Cousin findet sich im Hoehn-u.-Yahr-Stadium 4 zusätzlich eine Demenz. Ein vierter Cousin hat einen bilateralen Ruhetremor und eine Psychose, aber Rigor und Akinesie fehlen. Die Mütter der Indexpatienten waren ebenfalls betroffen. Schlussfolgerungen Es handelt sich um ein autosomal-dominantes vererbtes Parkinson-Syndrom.

Abstract

Objective We describe clinical features of a Bavarian family with parkinsonian features and dementia. Methods Neuropsychiatric examination and review of medical records. Results The ancestors of this family were traced to the 17^th century. Three personally examined cousins suffer from a syndrome consisting of unilateral parkinsonism, tremor, hyperreflexia, extensor plantar responses, facial asymmetry, depression and logopenia culminating in later stages in mutism and dementia. Disease onset was in the sixth decade. The mothers of the three were sisters and showed similar symptoms in their seventh decade. Review of the medical records of further deceased family members showed similar symptoms. A fourth cousin suffers from psychosis, but orofacial dyskinesisa and tremor might be medication side effects. Conclusions Despite unilateral disease onset, symptoms of this symptom cluster go beyond a pure Parkinsonian syndrome. The patients also suffer from involvement of the long motor tracts. The mode of inheritance of this Parkinsonian syndrome is autosomal-dominant with decreased penetrance.

Schlüsselwörter

Parkinson-Genetik - Pyramidenbahnzeichen - Mutismus - Tremor

Key words

parkinson genetics - pyramidal tract signs - mutism