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congenital cranial dysinnervation disorders

John K Chilton, Sarah Guthrie
Cranial nerves innervate head muscles in a well-characterised and highly conserved pattern. Identification of genes responsible for human congenital disorders of these nerves, combined with the analysis of their role in axonal development in animal models has advanced understanding of how neuromuscular connectivity is established. Here we focus on the ocular motor system, as an instructive example of the success of this approach in unravelling the aetiology of human strabismus. The discovery that ocular motility disorders can arise from mutations in transcription factors, including HoxA1, HoxB1, MafB, Phox2A and Sall4, has revealed gene regulatory networks that pattern the brainstem and/or govern the differentiation of cranial motor neurons...
December 29, 2016: Developmental Neurobiology
Aubrey L Gilbert, David G Hunter
Duane syndrome is a congenital cranial dysinnervation disorder involving absent or anomalous innervation of the lateral and medial rectus muscles that is sometimes associated with other manifestations of dysinnervation. We describe a patient with right esotropic Duane syndrome with a long-standing retroauricular tugging sensation in right gaze who was noted to have prominent ipsilateral oculo-auricular phenomenon, representing either abnormal enhancement of existing innervation or an uncommon dysinnervation...
December 10, 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Anupam Singh, P K Pandey, Ajai Agrawal, Sanjeev Kumar Mittal, Kartik Maheshbhai Rana, Chirag Bahuguna
The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility...
November 11, 2016: International Ophthalmology
Khaled K Abu-Amero, Arif O Khan, Darren T Oystreck, Altaf A Kondkar, Thomas M Bosley
PURPOSE: To assess the importance of monogenic mutations and chromosomal copy number variants (CNVs) in the occurrence of nonsyndromic bilateral Duane retraction syndrome (bilateral nsDRS). METHODS: The medical records of 12 patients with bilateral nsDRS were reviewed. Genes associated with DRS and associated congenital cranial dysinnervation disorders (SALL4, CHN1, HOXA1, TUBB3, and KIF21A) were sequenced in the standard fashion in each patient. Array comparative genomic hybridization (array CGH) was performed using Affymetrix Cytogenetics Whole-Genome 2...
September 20, 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Yavuz Sahin, Olcay Güngör, Akif Ayaz, Gülay Güngör, Bedia Sahin, Kursad Yaykasli, Serdar Ceylaner
Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients admitted for HCFP in a large consanguineous Turkish family. High-throughput sequencing and Sanger sequencing of all patients revealed a novel homozygous mutation p.Arg230Trp (c.688C>T) within the HOXB1 gene...
February 2017: Brain & Development
Pramod Kumar Pandey, Vishaal Bhambhwani, P C Ranjith, Mandar Kadav, C Aparnaa
The authors describe a case of congenital partial pupil-sparing third cranial nerve palsy with absent adduction, synergistic depression of globe and widening of palpebral fissure on attempted adduction and synergistic elevation and adduction on mouth opening and sideways thrusting of jaw. The case illustrates trigemino-oculomotor synkinesis associated with congenital third nerve palsy. The possible mechanism of miswiring involving the medial longitudinal fasciculus and trigeminal nuclei is discussed. At least some cases of congenital third cranial nerve palsy may fall in the realm of congenital cranial dysinnervation disorders (CCDDs) sharing a much wider spectrum of presentation...
May 2016: Indian Journal of Ophthalmology
Lorenzo Mari, Benjamin T Blacklock, Renata Stavinohova, Luisa De Risio
A 9-month-old French Bulldog was presented with a chronic history of lateral strabismus and intermittent third eyelid protrusion in the left eye. The neuro-ophthalmological examination revealed mild ptosis of the left upper eyelid, mild lateral strabismus, and external ophthalmoparesis of the left eye. Retraction and ventral deviation of the left eye globe with protrusion of the third eyelid and elevation of the upper eyelid were elicited on attempted voluntary adduction of the left eye. Hematology, serum biochemistry, serology for infectious diseases, magnetic resonance of the head, and cerebrospinal fluid analysis did not reveal significant abnormalities...
June 18, 2016: Veterinary Ophthalmology
Markus Vogel, Eunike Velleuer, Leon F Schmidt-Jiménez, Ertan Mayatepek, Arndt Borkhardt, Malik Alawi, Kerstin Kutsche, Fanny Kortüm
Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the isolated dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Möbius syndrome shares facial palsy with HCFP, but is additionally characterized by limited abduction of the eye(s). Genetic heterogeneity has been documented for HCFP as one locus mapped to chromosome 3q21-q22 (HCFP1) and a second to 10q21.3-q22.1 (HCFP2)...
July 2016: American Journal of Medical Genetics. Part A
Khaled K Abu-Amero, Altaf A Kondkar, Ali M Hellani, Thomas M Bosley, Arif O Khan
No abstract text is available yet for this article.
January 2016: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
Darren Oystreck
Concepts regarding certain forms of congenital eye movement disorders have recently changed, due in large part to new genetic evidence identifying causative genes and their role in the development of extraocular muscle innervation. This group is now referred to as the Congenital Cranial Dysinnervation Disorders (CCDDs). Careful assessment of phenotypic features that include both ophthalmological and non-ophthalmological features in genetically defined individuals has led to the development of a more robust classification system...
2015: American Orthoptic Journal
Arif O Khan, Saleh Al-Mesfer
Congenital cranial dysinnervation disorders are phenotypes of incomitant strabismus and/or ptosis. Recessive mutations in COL25A1 are a recently reported cause, but the associated ophthalmic phenotypes have not been detailed. We highlight phenotypes of the 4 affected children from the 2 reported families: isolated congenital ptosis (one unilateral, one bilateral) and Duane syndrome (one unilateral, one bilateral) with synergistic divergence. Further study is needed to understand how frequently recessive COL25A1 mutations underlie these specific ocular phenotypes...
October 2015: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Tracey Coussens, Forrest J Ellis
PURPOSE OF REVIEW: Brown syndrome is an ocular motility disorder characterized by limited volitional and passive elevation of the eye in adduction. Although originally thought due to abnormalities in the trochlea or tendon sheath (limiting the free movement of the tendon through the trochlea), recent evidence suggests that some cases of congenital Brown syndrome may be related to neurodevelopmental abnormalities of the extraocular muscles (congenital cranial dysinnervation disorders, CCDD)...
July 2015: Current Opinion in Ophthalmology
Zehra Oya Uyguner, Güven Toksoy, Umut Altunoglu, Hilal Ozgur, Seher Basaran, Hülya Kayserili
Moebius syndrome (MBS) is a rare congenital disorder characterized by rhombencephalic mal development, mainly presenting with facial palsy with limited gaze abduction. Most cases are sporadic, possibly caused by a combination of environmental and genetic factors; however, no proven specific associations have been yet established. Hereditary congenital facial palsy (HCFP) is an autosomal dominant congenital dysinnervation syndrome, recognizable by the isolated dysfunction of the seventh cranial nerve. Mutant mice for Hoxb1 were reported to present with facial weakness, resembling MBS...
June 2015: European Journal of Medical Genetics
Mohammed Al Shamrani, Faeeqah Mahmoudi, Khaled K Abu-Amero, Arif O Khan
"Mirror movements" are an axonal guidance disorder that consists of involuntary contralateral movements that mimic unilateral intentional ones, typically involving the fingers of the hand. They can be isolated or associated with conditions such as Klippel-Feil syndrome, Kallmann syndrome, or congenital hemiplegia. Isolated congenital mirror movements are sometimes caused by autosomal dominant mutation in the genes DCC or RAD51. At least 4 previously reported cases had strabismus, 3 with Moebius syndrome and 1 with Duane retraction syndrome...
April 2015: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
M M Nentwich, M F Nentwich, J Maertz, U Brandlhuber, G Rudolph
Knowledge about hereditary eye diseases has been substantially increased by means of genetic testing during the last decade. This has resulted in a new classification of a number of disease patterns, which are characterised by non-progressive restrictive disorders of the oculomotor system, formerly classified as "congenital fibrosis syndromes". Based on the results of genetic testing, these ocular motility disorders are now referred to as "congenital cranial dysinnervation disorders" (CCDDs). They are caused by an impaired innervation of extraocular muscles because of a dysgenesis of the nuclei of the affected cranial nerves in the brainstem and pons and not by primary fibrosis of the extraocular muscles...
March 2015: Klinische Monatsblätter Für Augenheilkunde
Sarah Sarfraz, Saemah Nuzhat Zafar, Ayesha Khan
BACKGROUND: Duane retraction syndrome (DRS) is the most common of the ocular congenital cranial dysinnervation disorders .This study evaluates the types of Duane syndrome and its management in patients presenting to the paediatric and strabismus unit of a tertiary care eye hospital. METHODS: This case series study involved 41 patients diagnosed with Duane syndrome between January 2007 and December 2009. History of presenting complaints, past treatment and family history were recorded...
July 2014: Journal of Ayub Medical College, Abbottabad: JAMC
N J Gutowski, J K Chilton
Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance...
July 2015: Archives of Disease in Childhood
Sílvia Mendes, Diana Beselga, Sónia Campos, Arminda Neves, Joana Campos, Sílvia Carvalho, Eduardo Silva, João Paulo Castro Sousa
Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD)...
2015: Strabismus
Jameela M A Shinwari, Arif Khan, Salma Awad, Zakia Shinwari, Ayodele Alaiya, Mohamad Alanazi, Asma Tahir, Coralie Poizat, Nada Al Tassan
Abnormal ocular motility is a common clinical feature in congenital cranial dysinnervation disorder (CCDD). To date, eight genes related to neuronal development have been associated with different CCDD phenotypes. By using linkage analysis, candidate gene screening, and exome sequencing, we identified three mutations in collagen, type XXV, alpha 1 (COL25A1) in individuals with autosomal-recessive inheritance of CCDD ophthalmic phenotypes. These mutations affected either stability or levels of the protein. We further detected altered levels of sAPP (neuronal protein involved in axon guidance and synaptogenesis) and TUBB3 (encoded by TUBB3, which is mutated in CFEOM3) as a result of null mutations in COL25A1...
January 8, 2015: American Journal of Human Genetics
Emin Cumhur Sener, Hande Taylan Sekeroglu, Ozlem Ural, Banu Turgut Oztürk, Ali Sefik Sanaç
BACKGROUND: Congenital fibrosis of extraocular muscles (CFEOM) is a rare group of disorders with variable phenotypes that result from aberrant innervation to the EOMs leading to synergistic vertical and/or horizontal deviations. We report our experience with the surgical management of patients with CFEOM. MATERIALS AND METHODS: We reviewed the clinical findings, the surgical management, and outcomes of 52 consecutive CFEOM patients operated by one surgeon at a university hospital setting between 1993 and 2014...
December 2014: Ophthalmic Genetics
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