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Abstract Details

New Keys to Early Diagnosis: Ultrasound Patterns, Electrodiagnostics, and Clinical Scores in 150 Patients with Hereditary Polyneuropathies
Neuromuscular and Clinical Neurophysiology (EMG)
Neuromuscular and Clinical Neurophysiology (EMG) Posters (7:00 AM-5:00 PM)
094
Characterization of the nerve and muscle ultrasound patterns in hereditary neuropathy patients to enable an earlier diagnostic distinction and to establish a biomarker for disease follow-up.
Hereditary neuropathies are progressively disabling diseases with limited treatment options only. High resolution ultrasound (HRUS) of peripheral nerves and muscles is a new method for the examination of neuromuscular disorders. Recent studies have already demonstrated the diagnostic value of the Ultrasound Pattern Sum Score (UPSS) (Grimm et al., 2016).
We analyzed HRUS data in a cohort of 150 patients with different, genetically confirmed hereditary neuropathies and compared them to clinical and paraclinical results such as nerve conduction studies. The study was funded by Pfizer (ASPIRE 2018).

The most frequent mutation was the heterozygous PMP22 duplication accounting for 36.7% (n=55), followed by mutations in MPZ (n=16, 10,7%), TTR (n=14, 9.3%), GJB1 (n=15, 10%), and GLA (n=7, 4.7%).

The CMT1A cohort showed the significantly highest nerve enlargement in comparison to all other subgroups (UPSS mean=15.8±5.86, p<0.0001). The main characteristic ultrasound findings in HNPP patients were a high wrist-to-forearm ratio for the median nerve and cubital tunnel-to-upper arm ratio for the ulnar nerve (mean WTR+CUTR=4.63±1.45; p<0.0001 in comparison to all groups except Fabry’s disease) and a rather low UPSS, showing mostly normal nerve segments in between the entrapment sites (mean UPSS=1.88±1.99). In symptomatic hATTR patients, the UPSS ranged on a comparable score level with CMTX patients (mean=4.5±3.5 vs 4.07±4.33), and nerve enlargement was more focally pronounced.

TA muscles revealed the highest echo intensity in comparison to all other muscles (EITA mean=98.24±17.52). CMTNS-2 and CMTES showed a positive correlation and MRC sum an inverse correlation with overall muscle echointensity (CMTNS-2 p<0.0001; CMTES p<0.001; MRC sum p<0.0001).
HRUS is a useful diagnostic tool for the differentiation and monitoring of disease progression in hereditary polyneuropathies.
Authors/Disclosures
Natalie Winter (Department of Neurology, University Hospital Tuebingen)
PRESENTER 		Natalie Winter has nothing to disclose.
No disclosure on file
No disclosure on file
Maike Dohrn, MD (Department of Neurology, RWTH Aachen University Hospital) Dr. Dohrn has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Akcea, Alnylam, Pfizer, Amicus. Dr. Dohrn has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amicus, Akcea. Dr. Dohrn has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Akcea, Alnylam, Pfizer. The institution of Dr. Dohrn has received research support from Pfizer. Dr. Dohrn has received research support from German Research Foundation.