Analysis of the clinical course of non-Jewish, autosomal dominant torsion dystonia

1986 ◽  
Vol 1 (3) ◽  
pp. 163-178 ◽  
Author(s):  
Robert E. Burke ◽  
Mitchell F. Brin ◽  
Stanley Fahn ◽  
Susan B. Bressman ◽  
Carol Moskowitz
Keyword(s):  
Autosomal Dominant ◽  
Clinical Course ◽  
Torsion Dystonia

Elevated Plasma Dopamine-β-Hydroxylase Activity in Autosomal Dominant Torsion Dystonia

1973 ◽  
Vol 288 (6) ◽  
pp. 284-287 ◽  
Author(s):  
G. Frederick Wooten ◽  
Roswell Eldridge ◽  
Julius Axelrod ◽  
Robert S. Stern
Keyword(s):  
Autosomal Dominant ◽  
Elevated Plasma ◽  
Hydroxylase Activity ◽  
Torsion Dystonia

scholarly journals A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.

2014 ◽  
Vol 61 (4) ◽  
Author(s):  
Dagmara Kabzińska ◽  
Katarzyna Kotruchow ◽  
Joanna Cegielska ◽  
Irena Hausmanowa-Petrusewicz ◽  
Andrzej Kochański
Keyword(s):  
Genetic Counseling ◽  
Gene Mutation ◽  
Autosomal Dominant ◽  
Clinical Course ◽  
Axonal Neuropathy ◽  
Gene Mutations ◽  
Special Importance ◽  
Recessive Trait ◽  
Dominant Form ◽  
Charcot Marie Tooth

Charcot-Marie-Tooth (CMT) disease caused by mutations in the GDAP1 gene has been shown to be inherited via traits that may be either autosomal recessive (in the majority of cases) [CMT4A] or autosomal dominant [CMT2K]. CMT4A disease is characterized by an early onset, and a severe clinical course often leading to a loss of ambulation, whereas CMT2K is characterized by a mild clinical course of benign axonal neuropathy beginning even in the 6th decade of life. Clinical data from a GDAP1 mutated patient suggests that the presence of a particular mutation is associated with a certain trait of inheritance. The association of a particular GDAP1 gene mutation and a dominant or recessive trait of inheritance is of special importance for genetic counseling and the prenatal diagnostics as regards severe forms of CMT. In the present study we report on two CMT families in which a newly identified Glu222Lys mutation within the GDAP1 gene segregates both in autosomal dominant and recessive traits. Our study shows that at least some GDAP1 gene mutations may segregate with the CMT phenotype as both dominant and recessive traits. Thus, genetic counseling for CMT4A/CMT2K families requires more extensive data on GDAP1 phenotype-genotype correlations.

Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome

2020 ◽  
Vol 13 (8) ◽  
pp. e235703 ◽  
Author(s):  
Margarita E Polyak ◽  
Anna Shestak ◽  
Dmitriy Podolyak ◽  
Elena Zaklyazminskaya
Keyword(s):  
Genetic Information ◽  
Autosomal Dominant ◽  
Clinical Course ◽  
Compound Heterozygous ◽  
Dna Testing ◽  
Qt Intervals ◽  
Dominant Disease ◽  
Prolonged Qt ◽  
Qt Syndrome ◽  
Possible Cause

Andersen-Tawil syndrome (ATS) is a rare channelopathy, sometimes referred to as long QT syndrome type 7. ATS is an autosomal dominant disease predominantly caused by mutations in the KCNJ2 gene. Patients with ATS present with episodes of muscle weakness, arrythmias, including prolonged QT intervals, and various skeletal abnormalities. Unlike other channelopathies, ATS has a relatively mild clinical course and low risk of sudden cardiac death. In this study, we describe a female patient with typical symptoms of ATS with the addition of unusually severe arrhythmias. Extensive DNA testing was performed to find the possible cause of this unique presentation. In addition to a known mutation in KCNJ2, the patient carried a variant in KCNH2. The combination of genetic variants may lead to the severe clinical manifestation of ATS. Additional genetic information allowed accurate genetic counselling to be provided to the patient.

Evidence for Locus Heterogeneity in Autosomal Dominant Torsion Dystonia

Genomics ◽  
1993 ◽  
Vol 15 (1) ◽  
pp. 9-12 ◽  
Author(s):  
F. Ahmad ◽  
M.B. Davis ◽  
H.M. Waddy ◽  
C.A. Oley ◽  
C.D. Marsden ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Locus Heterogeneity ◽  
Torsion Dystonia

scholarly journals Hailey-Hailey Disease: A Case Study Report with Review of Literature

2018 ◽  
pp. 13-17
Author(s):  
Shweta ◽  
Vijetha Rai ◽  
Kuladeepa Ananda Vaidhya ◽  
Sukesh
Keyword(s):  
Differential Diagnosis ◽  
Skin Disease ◽  
Autosomal Dominant ◽  
Clinical Course ◽  
Brick Wall ◽  
Review Of Literature ◽  
Histopathological Features ◽  
Study Report ◽  
Case Study Report

Hailey-Hailey disease (HHD), also called as familial benign chronic pemphigus, is a rare autosomal dominant blistering skin disease with waxing and waning in its clinical course. It is characterized by the presence of flaccid vesiculo-pustules, crusted erosions or expanding plaques in the areas of friction such as neck, axilla, groins, and perineum. His to pathologically shows suprabasal separations, inconspicuous dyskeratosis, acantholytic cells within the epidermis, giving a dilapidated brick wall appearance. Here we have discussed about the clinical and histopathological features of HHD and various differential diagnosis for this disease.

scholarly journals Fontaine Progeroid Syndrome -- A Case Report

2021 ◽  
Author(s):  
Sinead Lally ◽  
Nicola Walsh ◽  
Janna Kenny ◽  
Orla Franklin ◽  
Melanie Cotter ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Clinical Course ◽  
Chromosome 1 ◽  
Progeroid Syndrome ◽  
Autosomal Dominant Condition ◽  
Pathogenic Variants ◽  
Dominant Condition ◽  
Early Lethality

Fontaine Progeroid Syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene located on chromosome 1. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.

scholarly journals Hyperekplexia: Treatment of a Severe Phenotype and Review of the Literature

2011 ◽  
Vol 38 (3) ◽  
pp. 411-416 ◽  
Author(s):  
Aleksandra Mineyko ◽  
Sharon Whiting ◽  
Gail E. Graham
Keyword(s):  
Cardiac Arrest ◽  
Autosomal Dominant ◽  
Clinical Course ◽  
Treatment Options ◽  
Molecular Genetic ◽  
Clinical Severity ◽  
Review Of The Literature ◽  
Severe Phenotype ◽  
Therapeutic Measures ◽  
Affected Infant

Hyperekplexia is a rare disorder caused by autosomal dominant or recessive modes of inheritance and characterized by episodes of exaggerated startle. Five causative genes have been identified to date. The syndrome has been recognized for decades and due to its rarity, the literature contains mostly descriptive reports, many early studies lacking molecular genetic diagnoses. A spectrum of clinical severity exists. Severe cases can lead to neonatal cardiac arrest and death during an episode, an outcome prevented by early diagnosis and clinical vigilance. Large treatment studies are not feasible, so therapeutic measures continue to be empiric. A marked response to clonazepam is often reported but refractory cases exist. Herein we report the clinical course and treatment response of a severely affected infant homozygous for an SLC6A5 nonsense mutation and review the literature summarizing the history and genetic understanding of the disease as well as the described comorbidities and treatment options.

scholarly journals Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia

2019 ◽  
Vol 09 (01) ◽  
pp. e10-e14 ◽  
Author(s):  
Matthew Merves ◽  
Kimberly Parsons ◽  
Adina Alazraki ◽  
Jonathan Meisel ◽  
Cary Sauer ◽  
...  
Keyword(s):  
High Risk ◽  
Gastrointestinal Bleeding ◽  
Intracranial Hemorrhage ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
Clinical Course ◽  
Vascular Dysplasia ◽  
Prenatal Imaging ◽  
Delivery Options

AbstractHereditary hemorrhagic telangiectasia (HHT) is an underreported autosomal dominant vascular dysplasia. Neonatal presentations of HHT are rare, as this disorder typically presents in adolescence or beyond with epistaxis. We report a female neonate with hematochezia on the 1st day of life secondary to multiple gastrointestinal arteriovenous malformations (AVMs) along with intracranial hemorrhage. We describe her clinical course and management, as well as her novel family mutation in ENG. This is the first reported HHT case with significant gastrointestinal bleeding in the newborn. We review neonatal HHT and raise the consideration for more directed prenatal imaging and delivery options for fetuses at high risk of HHT.

scholarly journals Generational Expression of Muir-Torre Syndrome in a Canadian Family

2016 ◽  
Vol 2016 ◽  
pp. 1-4
Author(s):  
Kaitlin Alexandra Vanderbeck ◽  
R. Gary Sibbald ◽  
Nirosha Murugan
Keyword(s):  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Colorectal Adenocarcinoma ◽  
Autosomal Dominant ◽  
Expert Knowledge ◽  
Clinical Course ◽  
Diagnostic Challenge ◽  
Hereditary Nonpolyposis ◽  
History Of ◽  
Nodular Lesions ◽  
Extensive Family

Muir-Torre syndrome (MTS) is a rare autosomal dominant inherited genodermatosis that is considered to be a phenotypic subtype of hereditary nonpolyposis colorectal cancer (HNPCC), commonly referred to as Lynch syndrome. We describe the clinical course of a 57-year-old female patient with MTS. She has a confirmedHMSH2mutation. Recently she presented with two nodular lesions. Histologic examination confirmed these lesions to be sebaceous neoplasms. The patient has a history of endometrial and colorectal adenocarcinoma as well as several nonspecific sebaceous lesions throughout her life. She has a confirmed extensive family history of MTS with both male and female family members harbouring eitherHMLH1orHSMH2mutations. Affected relatives have presented at different ages throughout their lives with cutaneous neoplasms and visceral malignancies, including malignancies rarely associated with MTS. MTS presents a diagnostic challenge for clinicians. The case demonstrates that the management of MTS, a potentially underreported syndrome, requires a multiprofessional approach incorporating vigilance, screening, and expert knowledge for successful diagnosis and potentially improved prognosis for patients and their families. The case also demonstrates the varied heritability of MTS and prompts the question of how MTS is expressed in succeeding generations.

Sign in / Sign up

Export Citation Format

Share Document