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The modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies

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Abstract

The objective of this study is to evaluate the nerve ultrasound characteristics in genetically distinct inherited neuropathies, the value of the modified ultrasound pattern sum score (mUPSS) to differentiate between the subtypes and the correlation of ultrasound with nerve conduction studies (NCS), disease duration and severity. All patients underwent a standardized neurological examination, ultrasound, and NCS. In addition, genetic testing was performed. Consequently, mUPSS was applied, which is a sum-score of cross-sectional areas (CSA) at predefined anatomical points in different nerves. 31 patients were included (10xCharcot-Marie-Tooth (CMT)1a, 3xCMT1b, 3xCMTX, 9xCMT2, 6xHNPP [Hereditary neuropathy with liability to pressure palsies]). Generalized, homogeneous nerve enlargement and significantly increased UPS scores emphasized the diagnosis of demyelinating neuropathy, particularly CMT1a and CMT1b. The amount of enlargement did not depend on disease duration, symptom severity, height and weight. In CMTX the nerves were enlarged, as well, however, only in the roots and lower limbs, most prominent in men. In CMT2 no significant enlargement was detectable. In HNPP the CSA values were increased at entrapped sites, and not elsewhere. However, a distinction from CMT1, which also showed enlarged CSA values at entrapment sites, was only possible by calculating the entrapment ratios and entrapment score. The mUPSS allowed distinction between CMT1a (increased UPS scores, entrapment ratios <1.0) and HNPP (low UPS scores, entrapment ratios >1.4), while CMT1b and CMTX showed intermediate UPS types and entrapment ratios <1.0. Although based on few cases, ultrasound revealed consistent and homogeneous nerve alteration in certain inherited neuropathies. The modified UPSS is a quantitative tool, which may provide useful information for diagnosis, differentiation and follow-up evaluation in addition to NCS and molecular testing.

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Abbreviations

AUC:

Area under the curve

CIDP:

Chronic inflammatory demyelinating polyneuropathy

CMAP:

Compound muscle action potential

CMT:

Charcot-Marie tooth

CSA:

Cross-sectional area

CV:

Conduction velocity

dmL:

Distal motor latency

GJB 1:

Gap junction protein beta 1

HNPP:

Hereditary neuropathy with liability to pressure palsies

KIF1B:

Kinesin family member

LRASM:

Leucine rich repeat and sterile alpha motif-containing 1

MFN:

Mitofusin

MPZ:

Myelin protein zero

cm:

Centimetre

ms:

Millisecond

m/s:

Meter per second

mV:

Milli volt

NCS:

Nerve conduction study

NEFL:

Neurofilament light chain polypeptide

PMP22:

Peripheral myelin protein 22

PNUS:

Peripheral nerve ultrasound

SNAP:

Sensory nerve action potential

UPSS-A/B/C/D:

Ultrasound pattern sum score

mUPSS:

Modified UPSS

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Acknowledgments

Professor Dr. med. Peter Fuhr, Department of Electrophysiology, Basel University Hospital, Basel, Switzerland provided thoughtful insights and facilitated the conduction of the study.

Wessner Beatrice and Benkenstein Karolin, Department of Electrophysiology, Basel University Hospital, Basel, Switzerland, coordinated the appointments of the patients.

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Authors and Affiliations

  1. Department of Neurology, Tuebingen University Hospital, University Tübingen, Hoppe-Seyler-Strasse 3, 72072, Tübingen, Germany

    Alexander Grimm, Nele Maria Dammeier, Christina Lipski, Stefan Wolking & Debora Vittore

  2. Department of Neurology, Basel University Hospital, Basel, Switzerland

    Alexander Grimm, Maria Rasenack, Ioanna M. Athanasopoulou & Bernhard F. Décard

  3. Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany

    Alexander Grimm & Hubertus Axer

Authors
  1. Alexander Grimm
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  2. Maria Rasenack
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  3. Ioanna M. Athanasopoulou
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  4. Nele Maria Dammeier
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  5. Christina Lipski
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  6. Stefan Wolking
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  7. Debora Vittore
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  8. Bernhard F. Décard
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  9. Hubertus Axer
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Correspondence to Alexander Grimm.

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The authors report no competing interests.

Ethical standards

The study was approved by the local ethics committee (EKZN 2014-230 and No. 3663-01/13).

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Informed consent was obtained from all patients and controls.

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Grimm, A., Rasenack, M., Athanasopoulou, I.M. et al. The modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies. J Neurol 263, 221–230 (2016). https://doi.org/10.1007/s00415-015-7953-7

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  • DOI: https://doi.org/10.1007/s00415-015-7953-7

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