Amyotrophic lateral sclerosis with multiple sclerosis: A clinical and pathological report

Abstract

We report a 62-year-old woman with a past history of painful central visual loss who developed progressive quadriparesis and bulbar palsy. Neurological examination revealed widespread upper and lower motor neuron signs in the bulbar region and extremities. Electromyography demonstrated widespread active and chronic motor axon loss. Magnetic resonance neuroimaging studies revealed enhancing callosal and periventricular white matter lesions and cervical and thoracic cord hyperintensities. Cerebrospinal fluid analysis was consistent with multiple sclerosis. The patient died of respiratory failure two years after presentation, and autopsy revealed multifocal demyelination involving the corpus callosum, cerebellum and spinal cord as well as pathologic findings typical of amyotrophic lateral sclerosis. A review of the literature confirms the exceedingly unusual combination of amyotrophic lateral sclerosis with multiple sclerosis.

Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions ofC9ORF72

“…There is evidence that our patients with MS-ALS share genetic risk factors for autoimmunity: patient 4 had subclinical hyperthyroidism and a strong family history of thyroid disease; patient 7 had hypothyroidism; patients 1 and 6 had a family history of MS. A similar association was previously described in MS-ALS by Dynes et al 5. An association between ALS and HLA genotypes is controversial.…”

Concurrent multiple sclerosis and amyotrophic lateral sclerosis: where inflammation and neurodegeneration meet?

“…Dynes et al . [5] described a case of a 62-year lady presenting with progressive quadriplegia and bulbar palsy who also experienced symptoms consistent with Lhermitte's phenomenon and paresthesia within an overlapping timeframe of just several months. Here we present yet another case of pathologically confirmed coincident MS and ALS and highlight the emerging overlap between these respectively viewed inflammatory and neurodegenerative diseases.…”

Multiple sclerosis and amyotrophic lateral sclerosis: a human leukocyte antigen challenge

“…To our knowledge, only three cases supporting this interesting association have been described by clinical, laboratory, and post-mortem studies, so far [3][4][5]. Herein, we present further four cases (all Caucasian females, dead for respiratory failure), describing the clinical-laboratory findings and outcomes.…”