Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin?
Amyotroph Lateral Scler Frontotemporal Degener
; 20(3-4): 172-175, 2019 05.
Article
in En
| MEDLINE
| ID: mdl-30889971
ABSTRACT
Objective:
To describe a patient with facial onset sensory and motor neuronopathy (FOSMN) carrying heterozygous mutations in both TARDBP and SQSTM1 genes.Methods:
The patient underwent neurological, neuropsychological, and neurophysiological examinations. Brain magnetic resonance imaging (MRI) and extensive genetic analysis were also performed.Results:
The neurological examination showed dysphonia, left trigeminal hypesthesia, and left masseter and temporalis muscle atrophy. Mild cognitive impairment, affecting predominantly executive functions and social cognition, was appreciable in the neuropsychological examination. The electrophysiological studies revealed left abnormal blink reflex; neurogenic changes in bulbar and cervical muscles; normal motor evoked potential amplitude, central motor conduction time and cortical silent period. Brain MRI showed right-predominant frontotemporal atrophy. Genetic analysis showed a heterozygous mutation in TARDBP (p.A390S) and in SQSTM1 (p.P392L), both previously described as causing amyotrophic lateral sclerosis. The SQSTM1, but not the TARDBP, mutation was found in both healthy siblings.Conclusions:
Our data provide new clinical, neuroimaging, and genetic evidence that FOSMN is a neurodegenerative disease of the motor neuron disease and frontotemporal dementia spectrum, with a possible oligogenic origin. Multicentric efforts focusing on cognitive and genetic studies are necessary to confirm this hypothesis and to determine if ALS genes should be systematically screened in these patients.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hereditary Sensory and Motor Neuropathy
/
Motor Neuron Disease
/
Facial Nerve Diseases
Type of study:
Clinical_trials
/
Etiology_studies
Limits:
Aged
/
Humans
/
Male
Language:
En
Journal:
Amyotroph Lateral Scler Frontotemporal Degener
Year:
2019
Document type:
Article
Affiliation country:
España