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Respiratory Onset Amyotrophic Lateral Sclerosis in a Patient With C9orf72 Expansion
Reece M Hass1, Sandra Reiter-Campeau, Ruple S Laughlin
1Department of Neurology, Mayo Clinic, Rochester, MN.
Abstract:
Respiratory-onset amyotrophic lateral sclerosis (ALS) is uncommon, accounting for less than 5% of all patients with ALS. Familial ALS is also uncommon, with the most common variant being related to a C9orf72 hexanucleotide repeat expansion. Respiratory-onset ALS in familial ALS is rare, with few cases discussed in the literature related to ERBB4, SOD1, and FUS variants. Here we present a case of respiratory-onset ALS related to a C9orf72 repeat expansion, expanding the spectrum of associated phenotypes associated with C9orf72 expansions and highlighting the importance of genetic testing in patients living with ALS.
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