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01-12-2010 | Medical Progress in the Journal of Neurology

Neuromuscular disorders and 2010: recent advances

Authors: Anna Sarkozy, Hanns Lochmüller

Published in: Journal of Neurology | Issue 12/2010

Abstract

This short review summarises the research articles related to neuromuscular disorders published in the Journal of Neurology over the last year from May 2009 to July 2010.

Oba-Shinjo SM, da Silva R, Andrade FG, Palmer RE, Pomponio RJ, Ciociola KM, S Carvalho M, Gutierrez PS, Porta G, Marrone CD, Munoz V, Grzesiuk AK, Llerena JC Jr, Berditchevsky CR, Sobreira C, Horovitz D, Hatem TP, Frota ER, Pecchini R, Kouyoumdjian JA, Werneck L, Amado VM, Camelo JS Jr, Mattaliano RJ, Marie SK (2009) Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. J Neurol 256:1881–1890CrossRefPubMed

Walter MC, Czermin B, Muller-Ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-Feder E, Lochmüller H, Chinnery PF, Klopstock T, Horvath R (2010) Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2. J Neurol 257:1517–1523CrossRefPubMed

Horváth R, Bender A, Abicht A, Holinski-Feder E, Czermin B, Trips T, Schneiderat P, Lochmüller H, Klopstock T (2009) Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia. J Neurol 256:810–815CrossRefPubMed

Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauché S, Rouche A, Gras D, Fournier E, Koenig J, Stojkovic T, Lacour A, Petiot P, Zagnoli F, Viollet L, Pellegrini N, Orlikowski D, Lazaro L, Ferrer X, Stoltenburg G, Paturneau-Jouas M, Hentati F, Fardeau M, Sternberg D, Hantaï D, Richard P, Eymard B (2010) Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. J Neurol 257:754–766CrossRefPubMed

Brugnoni R, Maggi L, Canioni E, Moroni I, Pantaleoni C, D’Arrigo S, Riva D, Cornelio F, Bernasconi P, Mantegazza R (2010) Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. J Neurol 257:1119–1123CrossRefPubMed

Pollazzon M, Suominen T, Penttilä S, Malandrini A, Carluccio MA, Mondelli M, Marozza A, Federico A, Renieri A, Hackman P, Dotti MT, Udd B (2010) The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. J Neurol 257:575–579CrossRefPubMed

Kiphuth IC, Krause S, Huttner HB, Dekomien G, Struffert T, Schröder R (2010) Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation. J Neurol 257:658–660CrossRefPubMed

Huang J, Wu X, Montenegro G, Price J, Wang G, Vance JM, Shy ME, Züchner S (2010) Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. J Neurol 257:735–741CrossRefPubMed

Reilich P, Schramm N, Schoser B, Schneiderat P, Strigl-Pill N, Müller-Höcker J, Kress W, Ferbert A, Rudnik-Schöneborn S, Noth J, Lochmüller H, Weis J, Walter MC (2010) Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. J Neurol 257:1108–1118CrossRefPubMed

10.

Eger K, Jordan B, Habermann S, Zierz S (2010) Beevor’s sign in facioscapulohumeral muscular dystrophy: an old sign with new implications. J Neurol 257:436–438CrossRefPubMed

11.

Stübgen JP, Stipp A (2010) Facioscapulohumeral muscular dystrophy: a prospective study of weakness and functional impairment. J Neurol 257:1457–1464CrossRefPubMed

12.

Citterio A, Beghi E, Millul A, Evoli A, Mantegazza R, Antozzi C, Baggi F, Cornelio F, Durelli L, Clerico M, Piccolo G, Cosi V (2009) Risk factors for tumor occurrence in patients with myasthenia gravis. J Neurol 256:1221–1227CrossRefPubMed

13.

Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B (2010) Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol 257:91–97CrossRefPubMed

14.

Straathof CS, Overweg-Plandsoen WC, van den Burg GJ, van der Kooi AJ, Verschuuren JJ, de Groot IJ (2009) Prednisone 10 days on/10 days off in patients with Duchenne muscular dystrophy. J Neurol 256:768–773CrossRefPubMed

Title: Neuromuscular disorders and 2010: recent advances
Authors: Anna Sarkozy
Hanns Lochmüller
Publication date: 01-12-2010
Publisher: Springer-Verlag
Published in: Journal of Neurology / Issue 12/2010
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-010-5745-7

At a glance: The STEP trials

Springer Medicine

Neuromuscular disorders and 2010: recent advances

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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