Journal of Neurology, Neurosurgery & Psychiatry
Patient with ALS with a novel TBK1 mutation, widespread brain involvement, behaviour changes and metabolic dysfunction
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease defined by the presence of upper and lower motor neuron dysfunction. Clinical presentation and disease progression are variable between patients with ALS, with psychosocial, neuropsychological, nutritional and genetic factors all related to ALS outcome. We present a detailed characterisation of a patient with familial ALS with a novel TBK1 mutation with coexistent brain atrophy, behavioural changes and metabolic dysfunction.
This male patient was first seen at age 62 years with a 3-month history of gait unsteadiness, weakness of the right arm and emotional lability. There was a history of depression. His father had died of ALS at age 67 years. At first assessment, there was weakness of the right upper limb, ALS Functional Rating Scale-Revised (ALSFRS-R) was 39 and his weight was 72 kg. After 6 months, there was onset of dysphagia. He had tongue…
Source: Journal of Neurology, Neurosurgery & Psychiatry