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Abstract Details

LAMA2 Mutation Presenting as Leukodystrophy and Cancer: Case Series
Multiple Sclerosis
P8 - Poster Session 8 (5:30 PM-6:30 PM)
6-005
To report adult-onset, autosomal dominant leukodystrophy associated with novel LAMA2 nonsense mutation in two sisters presenting with white matter abnormalities in absence of myopathy.
The LAMA2 gene (chromosome 6q22-q23), encodes for the alpha-2 subunit of laminin-211(merosin), which is expressed in skeletal muscle. Merosin is involved with cell adhesion, cell differentiation, neurite growth, and schwann cell migration. LAMA2 mutations (autosomal recessive) lead to LAMA2-related muscular dystrophy (LAMA2 MD) with varying phenotypic presentation from severe congenital to milder late-onset. White matter abnormalities in children with early onset LAMA2 MD is well appreciated, however, only one case report of LAMA2 mutation mimicking MS exists. LAMA2-mediated leukodystrophy may be related to merosin’s role in the blood brain barrier.
NA

Case #1: 55 y/o female, history of epilepsy, thyroid cancer, seen for incidental findings of confluent progressive white matter lesions on MRI brain. She had no neurological symptoms and neurological examination including a comprehensive neuropsychological testing was normal. 

Case #2: 58 y/o female, history of multiple cancers (thyroid cancer 2006, breast cancer 2006, lung cancer 2021), seen in 2007 for incidental findings of white matter lesions on MRI brain. Laboratory and CSF evaluation negative. Repeat MRI showed progression (see imaging). She had no neurological symptoms, but 3/2022 examination showed increased tone in legs and reduced vibration at toes with absent ankle jerks. Neuropsychiatric testing revealed average cognitive function with deficiency in some functional domains. 

Genetic testing in both patients (sisters) showed the same single nucleotide nonsense LAMA2 gene mutation, suggesting pathogenesis.
We present a case series of two sisters with an atypical presentation of a LAMA2 mutation related disorder: 1) no neuromuscular findings, 2) multiple cancers in the two patients and first degree relatives, and 3) autosomal dominant inheritance pattern. This unique presentation allows us to better understand the variable presentation of LAMA2 caused disorders.
Authors/Disclosures
Shreya R. Goyalpatel
PRESENTER 		No disclosure on file
Neelam Goyal, MD, FAAN (Stanford University) Dr. Goyal has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Argenx. Dr. Goyal has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for UCB. Dr. Goyal has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Janssen. Dr. Goyal has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion. The institution of Dr. Goyal has received research support from Argenx.
May Han, MD (Stanford University) Dr. Han has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Dr. Han has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Arena Pharmaceuticals.
Jacinda B. Sampson, MD, PhD Dr. Sampson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Dyne Therapeutics. Dr. Sampson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Viking Therapeutics. Dr. Sampson has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Biogen. Dr. Sampson has received research support from Marigold Foundation. Dr. Sampson has a non-compensated relationship as a Scientific Advisory Committee with Myotonic Dystrophy Foundation that is relevant to AAN interests or activities.