TY - JOUR
T1 - Concurrence of NMOSD and ALS in a patient with hexanucleotide repeat expansions of C9orf72
AU - Falzone, Yuri Matteo
AU - Radaelli, Marta
AU - Agosta, Federica
AU - Domi, Teuta
AU - Guerrieri, Simone
AU - Spinelli, Edoardo Gioele
AU - Pozzi, Laura
AU - Carrera, Paola
AU - Ferrari, Maurizio
AU - Comi, Giancarlo
AU - Filippi, Massimo
AU - Quattrini, Angelo
AU - Riva, Nilo
PY - 2019/7/3
Y1 - 2019/7/3
N2 - We describe a patient, previously known for NMOSD, who presented a rapidly progressive worsening of muscle strength, respiratory, and bulbar functions. ALS associated with cognitive impairment was diagnosed, while genetic analysis revealed a hexanucleotide repeat expansion in the C9orf72 gene. To the best of our knowledge, this is the first reported C9orf72-ALS patient with concurrent NMOSD. In consideration of the low prevalence of these two diseases, a by-chance co-occurrence is unlikely. Although the discovery of a disease-specific serum AQP4-IgG antibody has led to a broadening of the NMOSD, a progressive neurological deterioration, as shown by our patient, should be considered as a “red flag”, leading to alternative diagnostic hypotheses. Our report supports the hypothesis that in C9orf72-ALS neuroinflammation may contribute to disease penetrance or to determine an aggressive clinical phenotype. Further investigations are needed in order to establish possible shared neuroinflammatory patterns between ALS, NMOSD, and other neuroinflammatory disorders.
AB - We describe a patient, previously known for NMOSD, who presented a rapidly progressive worsening of muscle strength, respiratory, and bulbar functions. ALS associated with cognitive impairment was diagnosed, while genetic analysis revealed a hexanucleotide repeat expansion in the C9orf72 gene. To the best of our knowledge, this is the first reported C9orf72-ALS patient with concurrent NMOSD. In consideration of the low prevalence of these two diseases, a by-chance co-occurrence is unlikely. Although the discovery of a disease-specific serum AQP4-IgG antibody has led to a broadening of the NMOSD, a progressive neurological deterioration, as shown by our patient, should be considered as a “red flag”, leading to alternative diagnostic hypotheses. Our report supports the hypothesis that in C9orf72-ALS neuroinflammation may contribute to disease penetrance or to determine an aggressive clinical phenotype. Further investigations are needed in order to establish possible shared neuroinflammatory patterns between ALS, NMOSD, and other neuroinflammatory disorders.
KW - AQP4
KW - aquaporin
KW - frontotemporal dementia
KW - Genetics
KW - motor neuron disease
KW - MRI
KW - multiple sclerosis
KW - neuroinflammation
UR - http://www.scopus.com/inward/record.url?scp=85064649560&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85064649560&partnerID=8YFLogxK
U2 - 10.1080/21678421.2019.1604761
DO - 10.1080/21678421.2019.1604761
M3 - Article
C2 - 31007077
AN - SCOPUS:85064649560
VL - 20
SP - 449
EP - 452
JO - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
JF - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
SN - 2167-8421
IS - 5-6
ER -