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Abstract Details

A Broad Phenotype Related to a New POLG1 Mutation
Muscle Disease/Neuromuscular Junction
P01 - (-)
121
BACKGROUND: The POLG1 gene is one the most frequently mutated nuclear gene causing a broad clinical spectrum of diseases that overlap with the clinically heterogeneous mitochondrial disorder, including PEO, myopathy and severe hepatic encephalopathy. Recently few cases of juvenile-onset Alpers' syndrome has been described defined by recurrent status epilepticus (SE) predominantly from the occipital lobe.
DESIGN/METHODS: We report the case of a nineteen-year-old healthy girl who came to the emergency for a new onset SE. This SE was characterized by intractable simple and complex partial seizures with motor, visual and oculomotor phenomenons. A second case of thirty-six year-old presented with long standing history of neuromyopathy.
RESULTS: Both patients are heterozygous compound for POLG1 Mutations. They carried a well-known mutation (G848S) causing Alpers' syndrome. They also carried another new missense mutation (A143V). Case one showed right occipital partial SE with sometimes generalization. She never complained of neuromuscular symptoms before. In the right occipital lobe, MRI showed T2/FLAIR and DWI hyperintense and restrictive signal as SPECT scan showed hypermetabolism within the same region. Case two demonstrated in his childhood global developmental delay with mild mental retardation. In adulthood he developed sensorineural hearing loss with progressive bilateral ptosis and a MNGIE like phenotype with sensitive axonal neuropathy, intestinal dysmotility, ataxia and generalized muscle atrophy. He never showed epilepsy. For the both, muscle biopsies were negative for ragged red fibers.
CONCLUSIONS: We described a new POLG mutation (A143V). This mutation seems to show a broad phenotype ranging from intractable epilepsy to cachectic myopathy. Face to uncommon condition affecting both central and peripheral nervous system, the clinician should evoke POLG spectrum disorders.
Authors/Disclosures
Nicolas Chrestian, MD
PRESENTER 		Dr. Chrestian has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Chrestian has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Chrestian has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Peer choice.
Nicolas Dupre, MD, FAAN (CHU de Quebec - U Laval) Dr. Dupre has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Akcea Therapeutics Canada. The institution of Dr. Dupre has received research support from ARSACS Foundation. The institution of Dr. Dupre has received research support from CHUdeQuebec Foundation.
Francesco Muntoni, MD (UCL Institute of Child Health) Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Sarepta. Dr. Muntoni has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Biogen. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Roche. The institution of Dr. Muntoni has received research support from European Commission. The institution of Dr. Muntoni has received research support from Medical Research Council. The institution of Dr. Muntoni has received research support from Biogen. The institution of Dr. Muntoni has received research support from Muscular Dystrophy UK. The institution of Dr. Muntoni has received research support from MDA USA. The institution of Dr. Muntoni has received research support from Sarepta. The institution of Dr. Muntoni has received research support from Association Francoise Myopathies. Dr. Muntoni has received personal compensation in the range of $0-$499 for serving as a Clinical expert with UK NICE Committee.