An ALS case with a novel D90N-SOD1 heterozygous missense mutation.
Abstract   Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease. We describe the case of a patient with a rapidly progressive form of ALS characterized by both upper and lower motor neuron impairment, no early bulbar signs and severe pain in all four extremities. The patient had a heterozygous c.271G > A mutation in SOD1, leading to an amino acids substitution of asparagine to aspartate at position 90 of the protein chain (p.D90N). Our report confirms that ALS patients with D90 codon heterozygous mutations may be associated with rapid progression and a prominent pain syndrome.
Department of Neuroscience, University of Turin, Turin, Italy. andreacalvo@hotmail.com
Andrea
A
Calvo
Antonio
A
Ilardi
Cristina
C
Moglia
Antonio
A
Canosa
Giovanna
G
Carrara
Consuelo
C
Valentini
Irene
I
Ossola
Maura
M
Brunetti
Gabriella
G
Restagno
Adriano
A
Chiò
D000368:Aged; D019943:Amino Acid Substitution; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology; D018450:Disease Progression; D005260:Female; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1