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1995 1
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Page 1
Evidence of peripheral axonal neuropathy in primary restless legs syndrome.
Iannaccone S, Zucconi M, Marchettini P, Ferini-Strambi L, Nemni R, Quattrini A, Palazzi S, Lacerenza M, Formaglio F, Smirne S. Iannaccone S, et al. Mov Disord. 1995 Jan;10(1):2-9. doi: 10.1002/mds.870100103. Mov Disord. 1995. PMID: 7885351
The present study extended peripheral nerve investigation in eight consecutive pRLS patients with normal neurological examination results and showed that all patients exhibited two or more electrical, psychophysiological, and/or morphological features of peripheral axon …
The present study extended peripheral nerve investigation in eight consecutive pRLS patients with normal neurological examination results an …
Efficacy of rituximab in refractory polyarteritis nodosa: a case report.
Boukhris I, Hamdi MS, Hariz A, Kesentini M, Azzabi S, Cherif E, Kechaou I, Hassine LB. Boukhris I, et al. Pan Afr Med J. 2023 Jun 21;45:92. doi: 10.11604/pamj.2023.45.92.36496. eCollection 2023. Pan Afr Med J. 2023. PMID: 37692987 Free PMC article.
We herein report the case of a 42-year-old male presenting a non-virus-related refractory PAN with a favorable outcome on rituximab. He presented significant weight loss, muscle weakness, peripheral axonal neuropathy, and medium-sized cutaneous vessel necroti …
We herein report the case of a 42-year-old male presenting a non-virus-related refractory PAN with a favorable outcome on rituximab. He pres …
Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement.
Carboni N, Porcu M, Mura M, Cocco E, Marrosu G, Maioli MA, Solla E, Tranquilli S, Orrù P, Marrosu MG. Carboni N, et al. Muscle Nerve. 2010 Jan;41(1):85-91. doi: 10.1002/mus.21443. Muscle Nerve. 2010. PMID: 19768759
The findings demonstrate that the exon 1 c.178 C/G, p.Arg 60 Gly LMNA gene mutation is associated with a novel phenotype featuring cardiac involvement followed by late lipodystrophy, diabetes, and peripheral axonal neuropathy....
The findings demonstrate that the exon 1 c.178 C/G, p.Arg 60 Gly LMNA gene mutation is associated with a novel phenotype featuring cardiac i …
A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype.
Rinaldi F, Bassi MT, Todeschini A, Rota S, Arnoldi A, Padovani A, Filosto M. Rinaldi F, et al. J Clin Neuromuscul Dis. 2015 Mar;16(3):153-8. doi: 10.1097/CND.0000000000000063. J Clin Neuromuscul Dis. 2015. PMID: 25695920
Our findings confirm that the "mixed" central-peripheral involvement is the most frequent clinical picture related to KIF5A motor domain mutations and that motor domain "in toto," even outside of the switch regions, is a hot spot for pathogenic mutations. We stress the concept th …
Our findings confirm that the "mixed" central-peripheral involvement is the most frequent clinical picture related to KIF5A motor domain mut …
Insidious peripheral neuropathy occurring under treatment in infantile MTHFR deficiency.
Chaabene-Masmoudi A, Mesrati F, Zittoun J, Landrieu P. Chaabene-Masmoudi A, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S303-6. doi: 10.1007/s10545-009-1240-7. Epub 2009 Aug 21. J Inherit Metab Dis. 2009. PMID: 19697151
At 15 years of age, however, despite no clear modification of the biochemical markers in body fluids, she developed a clinically overt peripheral axonal neuropathy. Only partial clinical improvement was obtained after reinforcement of betaine doses. ...
At 15 years of age, however, despite no clear modification of the biochemical markers in body fluids, she developed a clinically overt pe …
Infantile onset neurofibromatosis type 2 presenting with peripheral facial palsy, skin patches, retinal hamartoma and foot drop.
Tibussek D, Hübsch S, Berger K, Schaper J, Rosenbaum T, Mayatepek E. Tibussek D, et al. Klin Padiatr. 2009 Jul-Aug;221(4):247-50. doi: 10.1055/s-0028-1112155. Epub 2009 Jul 23. Klin Padiatr. 2009. PMID: 19629903
Clinical, electrophysiological, radiological, and molecular studies of the patient are shown. A peripheral axonal neuropathy of the left lower limb was found. Formerly unidentified retinal findings could be diagnosed as combined pigment epithelial, and retina …
Clinical, electrophysiological, radiological, and molecular studies of the patient are shown. A peripheral axonal neuropath …