Congenital mirror movements in a family with a novel mutation in the DCC gene

Abstract Event-related desynchronization/synchronization (ERD/ERS) at alpha (10Hz), beta (20Hz), and gamma (40Hz) bands and movement-related potentials (MRPs) were investigated in right-handed subjects who were “free” to decide the side of unilateral finger movements (“fixed” side as a control). As a novelty, this “multi-modal” EEG analysis was combined with the evaluation of involuntary mirror movements, taken as an index of “bimanual competition.” A main issue was whether the decision regarding the hand to be moved (“free” movements) could modulate ERD/ERS or MRPs overlying sensorimotor cortical areas typically involved in bimanual tasks. Compared to “fixed” movements, “free” movements induced the following effects: (1) more involuntary mirror movements discarded from EEG analysis; (2) stronger vertex MRPs (right motor acts); (3) a positive correlation between these potentials and the number of involuntary mirror movements; (4) gamma ERS over central areas; and (5) preponderance of postmovement beta ERS over left central area (dominant hemisphere). These results suggest that ERD/ERS and MRPs provide complementary information on the cortical processes belonging to a lateralized motor act. In this context, the results on vertex MRPs would indicate a key role of supplementary/cingulate motor areas not only for bimanual coordination but also for the control of “bimanual competition” and involuntary mirror movements.

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Bimanual mirror movements in a patient with Kallmann Syndrome

Neuropediatrics ◽

10.1055/s-0030-1265616 ◽

2010 ◽

Vol 41 (02) ◽

Author(s):

M Qirshi

Keyword(s):

Kallmann Syndrome ◽

Mirror Movements

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Danon Disease: Clinical Presentation and Diagnostic Workup in a Case of a Male Patient with a Novel Mutation in the LAMP2 Gene

Neuropediatrics ◽

10.1055/s-0036-1583661 ◽

2016 ◽

Vol 47 (S 01) ◽

Author(s):

A. Dieckmann ◽

F. Majer ◽

H. Hulkova ◽

M. Farr ◽

T. Kalina ◽

...

Keyword(s):

Male Patient ◽

Clinical Presentation ◽

Novel Mutation ◽

Diagnostic Workup ◽

Danon Disease ◽

Lamp2 Gene

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A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

Thrombosis and Haemostasis ◽

10.1055/s-0038-1650564 ◽

1996 ◽

Vol 76 (02) ◽

pp. 253-257 ◽

Cited By ~ 14

Author(s):

Takeshi Hagiwara ◽

Hiroshi Inaba ◽

Shinichi Yoshida ◽

Keiko Nagaizumi ◽

Morio Arai ◽

...

Keyword(s):

Missense Mutation ◽

Novel Mutation ◽

Point Mutations ◽

Japanese Patients ◽

Von Willebrand Disease ◽

Homozygous Mutation ◽

Missense Mutations ◽

Reaction Products ◽

Type 3 ◽

Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

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Characterization of the Original Christmas Disease Mutation (Cysteine 206 → Serine): From Clinical Recognition to Molecular Pathogenesis

Thrombosis and Haemostasis ◽

10.1055/s-0038-1648381 ◽

1992 ◽

Vol 67 (01) ◽

pp. 063-065 ◽

Cited By ~ 6

Author(s):

Sherryl A M Taylor ◽

Jacalyn Duffin ◽

Cherie Cameron ◽

Jerome Teitel ◽

Bernadette Garvey ◽

...

Keyword(s):

Nucleotide Substitution ◽

Novel Mutation ◽

Factor Ix ◽

Causative Mutation ◽

Coding Region ◽

Body Of Knowledge ◽

Polymerase Chain ◽

Splice Junctions

SummaryChristmas disease was first reported as a distinct clinical entity in two manuscripts published in 1952 (1, 2). The eponym associated with this disorder, is the surname of the first patient examined in detail and reported by Biggs and colleagues in a paper describing the clinical and laboratory features of seven affected individuals (3). This patient has severe factor IX coagulant deficiency (less than 0.01 units/ml) and no detectable circulating factor IX antigen (less than 0.01 units/ml). Coding sequence and splice junctions of the factor IX gene from this patient have been amplified in vitro through the polymerase chain reaction (PCR). One nucleotide substitution was identified at nucleotide 30,070 where a guanine was replaced by a cytosine. This mutation alters the amino acid encoded at position 206 in the factor IX protein from cysteine to serine. The non conservative nature of this substitution, the absence of this change in more than 200 previously sequenced factor IX genes and the fact that the remainder of the coding region of this gene was normal, all provide strong circumstantial evidence in favour of this change being the causative mutation in this patient. The molecular characterization of this novel mutation in the index case of Christmas disease, contributes to the rapidly expanding body of knowledge pertaining to Christmas disease pathogenesis.

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