PT  - JOURNAL ARTICLE
AU  - Wladimir B V R Pinto
AU  - Igor Braga Farias
AU  - Bruno de Mattos Lombardi Badia
AU  - Luiz Henrique Libardi Silva
AU  - Mario Teruo Yanagiura
AU  - Marco Antônio Troccoli Chieia
AU  - Paulo Victor Sgobbi de Souza
AU  - Acary Souza Bulle Oliveira
TI  - Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND)
AID  - 10.1136/practneurol-2018-002188
DP  - 2019 Oct 01
TA  - Practical Neurology
PG  - 424--426
VI  - 19
IP  - 5
4099  - http://pn.bmj.com/content/19/5/424.short
4100  - http://pn.bmj.com/content/19/5/424.full
SO  - Pract Neurol2019 Oct 01; 19
AB  - Atypical motor neurone disease (MND) represents a challenging and expanding group of neurodegenerative disorders involving the upper or lower motor neurones, and rarely both. Neuro-ophthalmological disturbances such as gaze-evoked downbeat nystagmus are extremely rare in the context of typical and atypical MND. Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND) syndrome has been recently recognised as a distinct syndromic phenotype of MND, with a characteristic clinical picture. We describe a 63-year-old woman with long-standing lower motor neurone involvement of the upper limbs, who on examination had gaze-evoked downbeat nystagmus. After extensive negative investigation for secondary causes of MND and downbeat nystagmus, we diagnosed FEWDON-MND syndrome.