Characteristics of dystonia in the 18p deletion syndrome, including a new case

Postma, Anna G.; Verschuuren‐Bemelmans, Corien C.; Kok, Klaas; Laar, Teus van

doi:10.1016/j.clineuro.2009.07.013

Cited by 16 publications

(31 citation statements)

References 22 publications

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“…We have identified 16 patients with 18p‐ syndrome and movement disorders (Table ). Dystonia was present in 15 of 16 patients . Ataxia without any dystonic feature was observed in a single patient.…”

Section: Resultsmentioning

confidence: 89%

“…Deletion of the GNAL ( guanine nucleotide‐binding protein, alpha‐activating activity polypeptide, olfactory type ) gene, which is located on 18p11.21, is the molecular‐genetic cause for dystonia in 18p‐ syndrome. Haploinsufficiency of GNAL was previously reported in several 18p‐ patients with dystonia . Deletion of 18p is dominantly inherited; however, de novo deletions are frequent .…”

Section: Discussionmentioning

confidence: 96%

“…Body distribution of dystonia showed a wide variability, although craniocervical dystonia was present in the majority of the patients. Myoclonus was reported in 3 patients . Vertical supranuclear gaze palsy and mild appendicular ataxia were observed as additional symptoms in an adult 18p‐ syndrome patient with lower limb dystonia .…”

Section: Discussionmentioning

confidence: 98%

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Spectrum of Movement Disorders in 18p Deletion Syndrome

Crosiers

Blaumeiser

Goethem

2018

Movement Disord Clin Pract

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Background Deletion of the short arm of chromosome 18 leads to 18p deletion syndrome. Clinical features include short stature, facial dysmorphism, mental retardation, and several types of movement disorders. Methods The 18p deletion syndrome in our patient was diagnosed using karyotype analysis and confirmed by genome‐wide single‐nucleotide polymorphism array. We have performed a literature search and summarized all previously reported patients with 18p deletion syndrome and movement disorders. Results We present a 41‐year‐old male patient with childhood‐onset generalized dystonia. Dystonia is the most prevalent movement disorder in 18p deletion patients, with onset ranging from childhood to adulthood. Chorea, myoclonus, tremor, tics, and ataxia have been reported in a minority of these patients. Conclusion Dystonia is commonly observed in 18p deletion syndrome. The variable size of the deletion on 18p is probably responsible for the broad phenotypic variability of movement disorders in this syndrome.

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Section: Resultsmentioning

confidence: 89%

Section: Discussionmentioning

confidence: 96%

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Spectrum of Movement Disorders in 18p Deletion Syndrome

Crosiers

Blaumeiser

Goethem

2018

Movement Disord Clin Pract

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“…GNAL is located on chromosome locus 18p11.22-p11.21, within the 18p deletion syndrome (OMIM 146390) region. The 18p deletion syndrome is characterized by mental retardation, growth retardation, craniofacial dysmorphism, and in many patients, dystonia [49, 50]. This region also harbors loci for DYT7 (OMIM 602124, autosomal dominant adult-onset cervical dystonia) and DYT15 (OMIM 607488, autosomal dominant alcohol-responsive myoclonic dystonia) [51, 52].…”

Section: Gnal/dyt25mentioning

confidence: 99%

Recent Advances in the Genetics of Dystonia

Xiao

Vemula

LeDoux

2014

Curr Neurol Neurosci Rep

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Dystonia, a common and genetically heterogeneous neurological disorder, was recently defined as “a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both.” Via the application of whole-exome sequencing, the genetic landscape of dystonia and closely related movement disorders is becoming exposed. In particular, several “novel” genetic causes have been causally associated with dystonia or dystonia-related disorders over the past 2 years. These genes include PRRT2 (DYT10), CIZ1 (DYT23), ANO3 (DYT24), GNAL (DYT25), and TUBB4A (DYT4). Despite these advances, major gaps remain in identifying the genetic origins for most cases of adult-onset isolated dystonia. Furthermore, model systems are needed to study the biology of PRRT2, CIZ1, ANO3, Gαolf, and TUBB4A in the context of dystonia. This review focuses on these recent additions to the family of dystonia genes, genotype-phenotype correlations, and possible cellular contributions of the encoded proteins to the development of dystonia.

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“…18p-The literature on 18p-includes 19 adults: 8 males and 11 females, the oldest being 62 years old (Babovic-Vuksanovic et al 2004;de Ravel et al 2005;Harris et al 1983;Jacobsen and Mikkelsen 1968;Maranda et al 2006;Mikelsaar et al 2002;Moedjono et al 1979;Portnoi et al 2007;Postma et al 2009;Rigola et al 2001;Ruvalcaba 1970;Tezzon et al 1998;Tsukahara et al 2001;Velagaleti et al 1996;Wester et al 2006;). The only deaths reported have been newborns with holoprosencephaly (Faust et al 1976;Nitowsky et al 1966;Tonk and Krishna 1997;Uchida et al 1965).…”

Section: Tetrasomy 18pmentioning

confidence: 99%

Adults with Chromosome 18 Abnormalities

Soileau

Hasi

Sebold

et al. 2014

Journal of Genetic Counseling

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The identification of an underlying chromosome abnormality frequently marks the endpoint of a diagnostic odyssey. However, families are frequently left with more questions than answers as they consider their child's future. In the case of rare chromosome conditions, a lack of longitudinal data often makes it difficult to provide anticipatory guidance to these families. The objective of this study is to describe the lifespan, educational attainment, living situation, and behavioral phenotype of adults with chromosome 18 abnormalities. The Chromosome 18 Clinical Research Center has enrolled 483 individuals with one of the following conditions: 18q-, 18p-, Tetrasomy 18p, and Ring 18. As a part of the ongoing longitudinal study, we collect data on living arrangements, educational level attained, and employment status as well as data on executive functioning and behavioral skills on an annual basis. Within our cohort, 28 of the 483 participants have died, the majority of whom have deletions encompassing the TCF4 gene or who have unbalanced rearrangement involving other chromosomes. Data regarding the cause of and age at death are presented. We also report on the living situation, educational attainment, and behavioral phenotype of the 151 participants over the age of 18. In general, educational level is higher for people with all these conditions than implied by the early literature, including some that received post-high school education. In addition, some individuals are able to live independently, though at this point they represent a minority of patients. Data on executive function and behavioral phenotype are also presented. Taken together, these data provide insight into the long-term outcome for individuals with a chromosome 18 condition. This information is critical in counseling families on the range of potential outcomes for their child.

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Characteristics of dystonia in the 18p deletion syndrome, including a new case

Cited by 16 publications

References 22 publications

Spectrum of Movement Disorders in 18p Deletion Syndrome

Spectrum of Movement Disorders in 18p Deletion Syndrome

Recent Advances in the Genetics of Dystonia

Adults with Chromosome 18 Abnormalities

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