Imperial College London


Faculty of MedicineDepartment of Brain Sciences

Professor of Practice (Neurology)







12L12CLab BlockCharing Cross Campus






BibTex format

author = {Nicotra, A and Newman, C and Johnson, M and Eremin, O and Friede, T and Malik, O and Nicholas, R},
doi = {10.1371/journal.pone.0152902},
journal = {PLOS One},
title = {Peripheral nerve dysfunction in middle-aged subjects born with thalidomide embryopathy},
url = {},
volume = {11},
year = {2016}

RIS format (EndNote, RefMan)

AB - BackgroundPhocomelia is an extremely rare congenital malformation that emerged as one extreme of arange of defects resulting from in utero exposure to thalidomide. Individuals with thalidomideembryopathy (TE) have reported developing symptoms suggestive of peripheral nervoussystem dysfunction in the mal-developed limbs in later life.MethodsCase control study comparing TE subjects with upper limb anomalies and neuropathicsymptoms with healthy controls using standard neurophysiological testing. Other causes ofa peripheral neuropathy were excluded prior to assessment.ResultsClinical examination of 17 subjects with TE (aged 50.4±1.3 [mean±standard deviation]years, 10 females) and 17 controls (37.9±9.0 years; 8 females) demonstrated features ofupper limb compressive neuropathy in three-quarters of subjects. Additionally there wereexamination findings suggestive of mild sensory neuropathy in the lower limbs (n = 1), L5radiculopathic sensory impairment (n = 1) and cervical myelopathy (n = 1). In TE there wereelectrophysiological changes consistent with a median large fibre neuropathic abnormality(mean compound muscle action potential difference -6.3 mV ([-9.3, -3.3], p = 0.0002) ([95%CI], p-value)) and reduced sympathetic skin response amplitudes (-0.8 mV ([-1.5, -0.2], p =0.0089)) in the affected upper limbs. In the lower limbs there was evidence of sural nervedysfunction (sensory nerve action potential -5.8 μV ([-10.7, -0.8], p = 0.0232)) and impairedwarm perception thresholds (+3.0°C ([0.6, 5.4], p = 0.0169)).ConclusionsWe found a range of clinical features relevant to individuals with TE beyond upper limb compressiveneuropathies supporting the need for a detailed neurological examination toexclude other treatable pathologies. The electrophysiological evidence of large and smallfibre axonal nerve dysfunction in symptomatic and asymptomatic limbs may be a result ofthe original insult and merits further investigation.
AU - Nicotra,A
AU - Newman,C
AU - Johnson,M
AU - Eremin,O
AU - Friede,T
AU - Malik,O
AU - Nicholas,R
DO - 10.1371/journal.pone.0152902
PY - 2016///
SN - 1932-6203
TI - Peripheral nerve dysfunction in middle-aged subjects born with thalidomide embryopathy
T2 - PLOS One
UR -
UR -
VL - 11
ER -