Familial mirror movements over five generations

Sharafaddinzadeh, Naser; Bavarsad, Reza; Yousefkhah, Mahyar; Aleali, Armaghan Moravej

doi:10.4103/0028-3886.44813

Cited by 12 publications

(11 citation statements)

References 6 publications

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“…Although the family described in this study shares some similarities with previously reported families, including onset in infancy or early childhood, predominance in the upper limbs with a distal‐to‐proximal severity gradient and little, or no, motor disability, its phenotype is somewhat different from those reported in families with DCC or RAD51 gene mutations. The first difference found in the present study is the high variability in the clinical expression of MMs, a feature not clearly recognized in other previously described families with congenital MMs . Second, MMs in our family varied from slight MMs of the fingers, of which the subjects were unaware, to gross MMs of the fingers, hand, and forearm that affected motor skills.…”

Section: Discussioncontrasting

confidence: 70%

“…It is possible that superimposed factors related to aging might influence expression of MMs. The course of congenital MMs has been described as stable in the majority of previously reported cases and has even been anecdotally reported to improve with aging . In the present study, subjects II‐1 and II‐4 also presented cognitive decline, mainly characterized by visuospatial impairment, associated with severe MMs (Supporting Table 1).…”

Section: Discussionsupporting

confidence: 64%

“…MMs may also be present in healthy subjects and, on rare occasions, even in several members of the same family with no other neurological signs (“congenital MMs”) . Mutations in the DCC gene were found to be the cause of congenital MMs in three unrelated families .…”

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confidence: 99%

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Congenital Mirror Movements in a New Italian Family

Fasano

Bologna

Iezzi

et al. 2014

Movement Disord Clin Pract

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Mirror movements (MMs) occur on the contralateral side of a limb being used intentionally. Because few families with congenital MMs and no other neurological signs have been reported, the underlying mechanisms of MMs are still not entirely clear. We report on the clinical, genetic, neurophysiological and neuroimaging findings of 10 of 26 living members of a novel four‐generation family with congenital MMs. DCC and RAD51 were sequenced in affected members of the family. Five of the ten subjects with MMs underwent neurophysiological and neuroimaging evaluations. The neurophysiological evaluation consisted of electromyographic (EMG) mirror recordings, investigations of corticospinal excitability, and analysis of interhemispheric inhibition using transcranial magnetic stimulation techniques. The neuroimaging evaluation included functional MRI during finger movements. Eight (all females) of the ten members examined presented MMs of varying degrees at the clinical assessment. Transmission of MMs appears to have occurred according to an autosomal‐dominant fashion with variable expression. No mutation in DCC or RAD51 was identified. EMG mirror activity was higher in MM subjects than in healthy controls. Short‐latency interhemispheric inhibition was reduced in MM subjects. Ipsilateral motor‐evoked potentials were detectable in the most severe case. The neuroimaging evaluation did not disclose any significant abnormalities in MM subjects. The variability of the clinical features of this family, and the lack of known genetic abnormalities, suggests that MMs are heterogeneous disorders. The pathophysiological mechanisms of MMs include abnormalities of transcallosal inhibition and corticospinal decussation.

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Section: Discussioncontrasting

confidence: 70%

Section: Discussionsupporting

confidence: 64%

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Congenital Mirror Movements in a New Italian Family

Fasano

Bologna

Iezzi

et al. 2014

Movement Disord Clin Pract

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“…Isolated congenital MM is usually a familial disorder with autosomal dominant inheritance [13,15,18,62,70,74]. Pathogenic heterozygous mutations in the DCC (deleted in colorectal carcinoma) gene were recently identified in three MM families from Canada, Iran, and Italy.…”

Section: Genetic Aspectsmentioning

confidence: 99%

Congenital mirror movements: a clue to understanding bimanual motor control

et al. 2011

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Mirror movements (MM) are involuntary movements of one side of the body that accompany and mirror intentional movements on the opposite side. Physiological MM can occur during normal childhood development, probably owing to corpus callosum immaturity. Pathological congenital MM may be clinically isolated or part of a complex congenital syndrome, including Kallmann syndrome, Klippel-Feil syndrome, and congenital hemiplegia. Congenital isolated MM are usually familial. Recently, heterozygous mutations of the DCC gene, with autosomal dominant inheritance, were shown to cause some cases of MM. The pathogenesis of congenital MM may involve (i) abnormal interhemispheric inhibition between the two motor cortices; (ii) functional alteration of motor planning and motor execution; and/or (iii) abnormal persistence of the ipsilateral corticospinal tract. Fundamental and clinical research is providing novel insights into the complex underlying molecular pathways, and recent experimental work has identified several mechanisms that may mediate the motor network dysfunction. In this review, we analyze clinical, genetic, neurophysiologic, and neuroimaging data on congenital MM, and discuss how this knowledge may improve our understanding of bimanual motor control.

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“…The observed structure of pedigrees with monoallelic, predicted LoF DCC mutations has suggested a sex‐bias in MMs and iACC phenotype expression (Marsh et al., ; Sharafaddinzadeh, Bavarsad, Yousefkhah, & Aleali, ; Srour et al., ). Indeed, within these pedigrees a significant proportion of males displayed MMs, while iACC was almost exclusively detected in females (Marsh et al., ).…”

Section: Genotype–phenotype Correlationmentioning

confidence: 99%

DCCmutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

et al. 2017

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The deleted in colorectal cancer (DCC) gene encodes the netrin‐1 (NTN1) receptor DCC, a transmembrane protein required for the guidance of commissural axons. Germline DCC mutations disrupt the development of predominantly commissural tracts in the central nervous system (CNS) and cause a spectrum of neurological disorders. Monoallelic, missense, and predicted loss‐of‐function DCC mutations cause congenital mirror movements, isolated agenesis of the corpus callosum (ACC), or both. Biallelic, predicted loss‐of‐function DCC mutations cause developmental split brain syndrome (DSBS). Although the underlying molecular mechanisms leading to disease remain poorly understood, they are thought to stem from reduced or perturbed NTN1 signaling. Here, we review the 26 reported DCC mutations associated with abnormal CNS development in humans, including 14 missense and 12 predicted loss‐of‐function mutations, and discuss their associated clinical characteristics and diagnostic features. We provide an update on the observed genotype–phenotype relationships of congenital mirror movements, isolated ACC and DSBS, and correlate this to our current understanding of the biological function of DCC in the development of the CNS. All mutations and their associated phenotypes were deposited into a locus‐specific LOVD (https://databases.lovd.nl/shared/genes/DCC).

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Familial mirror movements over five generations

Cited by 12 publications

References 6 publications

Congenital Mirror Movements in a New Italian Family

Congenital Mirror Movements in a New Italian Family

Congenital mirror movements: a clue to understanding bimanual motor control

DCCmutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

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