Parieto-occipital atrophy in chronic juvenile ALS with long-term progression of 47 years

Background: Chronic juvenile ALS is a heterogeneous disease, characterized by age of onset before 25 years, a progressive and benign course, upper and lower motor neuron involvement and the absence of sensory, cerebellar, extrapyramidal and other atypical features. Abnormalities on magnetic resonance imaging (MRI) have been reported in the cortex and corticospinal tract of a subset of typical ALS patients. Little is known about MRI features of ALS patients with long-term progression and survival.

Case Report: we report a 71 years old male patient, who at the age of 24 years developed a slowly-progressive upper and lower motor neuron syndrome. After the clinical course of 47 years the patient was wheelchair-dependent and showed a high grade of upper-extremity disability. In the last two years he noticed significant progression of dysarthria and dysphagia. The patient was without need for ventilatory support or sustained nutritional intervention. The ALS Severity Scale was currently 21 of 40. There were no atypical symptoms, and no evidence for dementia. Biochemical workup was negative.

Results: A diagnosis of chronic juvenile ALS was made. The patient fulfilled the criteria for definite ALS by the WFN criteria. T1 and T2 weighted MRI of the brain revealed severe, bilateral cortical atrophy of the parietal-occipital lobes and the pre-central gyrus, followed by cerebral atrophy of the frontal and anterior temporal regions. There was no evidence for signs of corticospinal tract hyperintensity.

Conclusion: We present a case of chronic juvenile-onset ALS with a natural history of 47 years and ongoing disease progression. This patient represents – to our knowledge – the longest reported disease duration of clinically typical and definite ALS. In our patient, MRI of the brain revealed an unusual pattern of severe cortical atrophy of the occipital, parietal lobes and the cingular gyrus. This finding contributes to the notion that chronic juvenile ALS may present with highly variable features of multi-system involvement. The investigation of extended groups of ALS patients with prolonged survival will be important to define MRI abnormalities which are associated with slow disease progression.