好色先生

好色先生

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Abstract Details

A 16 Year Prospective Study of Autosomal Dominant Progressive External Ophthalmoplegia Due to a PEO1 Mutation in a Large Family
Muscle Disease/Neuromuscular Junction
P07 - (-)
021
BACKGROUND: adPEO due to PEO1 mutations show a homogeneous clinical syndrome characterized by adult onset ptosis and ophthalmoplegia with variable proximal myopathy. Although it is considered a relatively benign condition, there are limited data about the long-term progression of patients.
DESIGN/METHODS: 22 members from two generations of an Irish-American family were examined in 1996. Sequence of the entire coding region of the PEO1 gene in all the individuals, revealed a c.1071G>C (p.R357P) mutation in nine individuals. We re-examined family members in 2012 according to a standardized protocol to assess progression of clinical manifestations.
RESULTS: Three out of nine mutation carriers had symptoms at recruitment (range 40-57 years). At follow-up, four more individuals developed signs, only one with symptoms. The age-at-onset ranged from 36 to 64 years, and the first symptom was always ptosis, which was assymmetric in only one case. One patient showed ophthalmoparesis without diplopia at recruitment and one more at follow-up. The ophthalmoparesis mainly affected upper-gaze. Five of the nine patients had blepharoplasty; twice in two individuals. Two patients showed mild neck flexion weakness, without overt progression. Scores for subjective health (EuroQol test) ranged from 90-100%.
CONCLUSIONS: This is the first prospective clinical follow-up of a large family with adPEO due to a PEO1 mutation. These patients showed a late-onset ocular myopathy with slow and benign progression, beginning with ptosis. Ophthalmoparesis was evident only by neurological examination and some patients remain unaffected. Our results indicate that this mutation causes a mild disease, which is important in providing genetic counseling to the family.
Authors/Disclosures
Carmen Paradas Lopez, MD, PhD
PRESENTER 		No disclosure on file
No disclosure on file
Valentina Emmanuele, MD, PhD (NYP at CUIMC) Dr. Emmanuele has nothing to disclose.
No disclosure on file
No disclosure on file
No disclosure on file
Michio Hirano, MD, FAAN (Columbia University Medical Center) Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UCB Biopharma SRL. Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Precision Biosciences. Dr. Hirano has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB Biopharma SRL. Dr. Hirano has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Apollo Communication. Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Envision Communications. Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for 好色先生. Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Cure SMA. Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Muscular Dystrophy Association. The institution of Dr. Hirano has received research support from UCB. The institution of Dr. Hirano has received research support from Cyclerion. The institution of Dr. Hirano has received research support from Astellas. The institution of Dr. Hirano has received research support from Tisento Therapeutics. The institution of Dr. Hirano has received research support from Stealth Biotherapeutics. The institution of Dr. Hirano has received research support from Abliva. Dr. Hirano has received intellectual property interests from a discovery or technology relating to health care. Dr. Hirano has received intellectual property interests from a discovery or technology relating to health care. Dr. Hirano has received personal compensation in the range of $0-$499 for serving as a Study Section Reviewer with NIH. Dr. Hirano has a non-compensated relationship as a Research Advisory Board member with Muscular Dystrophy Association that is relevant to AAN interests or activities. Dr. Hirano has a non-compensated relationship as a Scientific and Medical Advisory Board member with United Mitochondrial Disease Foundation that is relevant to AAN interests or activities. Dr. Hirano has a non-compensated relationship as a Scientific Advisory Board member with Barth Syndrome Foundation that is relevant to AAN interests or activities.
Dawn O. Kleindorfer, MD, FAAN (University of Michigan Department of Neurology) Dr. Kleindorfer has nothing to disclose.