scholarly journals A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance

2015 ◽  
Vol 2015 ◽  
pp. 1-3
Author(s):  
Christian Grønhøj Larsen ◽  
Mette Gyldenløve ◽  
Aia Elise Jønch ◽  
Birgitte Charabi ◽  
Zeynep Tümer
Keyword(s):  
Facial Palsy ◽  
Autosomal Dominant ◽  
Case Series ◽  
Neurologic Disorder ◽  
Complete Penetrance ◽  
Generation Family ◽  
Number Variation ◽  
Microarray Studies ◽  
Idiopathic Facial Palsy ◽  
Chromosome Microarray

Idiopathic facial palsy (IFP), also known as Bell’s palsy, is a common neurologic disorder, but recurrent and familial forms are rare. This case series presents a three-generation family with idiopathic facial palsy. The mode of inheritance of IFP has previously been suggested as autosomal dominant with low or variable penetrance, but the present family indicates an autosomal dominant trait with high or complete penetrance. Chromosome microarray studies did not reveal a pathogenic copy number variation, which could enable identification of a candidate gene.

scholarly journals Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

Neurogenetics ◽  
2021 ◽  
Author(s):  
Luca Magistrelli ◽  
Roberta Croce ◽  
Fabiola De Marchi ◽  
Chiara Basagni ◽  
Miryam Carecchio ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Case Series ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Phenotypic Spectrum ◽  
Primary Familial Brain Calcification ◽  
Psychiatric Disturbances ◽  
Brain Calcification ◽  
Uncertain Significance ◽  
Six Genes

AbstractPrimary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly present with movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants in SLC20A2, two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in SLC20A2.

Recurrent bilateral peripheral facial palsy

1989 ◽  
Vol 103 (1) ◽  
pp. 117-119 ◽  
Author(s):  
N. Stahl ◽  
T. Ferit
Keyword(s):  
Facial Nerve ◽  
Facial Palsy ◽  
Common Finding ◽  
Facial Nerve Paralysis ◽  
Nerve Paralysis ◽  
Peripheral Facial Palsy ◽  
Local Disease ◽  
Idiopathic Facial Palsy

AbstractFacial nerve paralysis is a common otolaryngological diagnosis. Recurrent unilateral peripheral facial palsy is found in about 7 per cent of the cases. Simultaneous bilateral facial palsy is relatively uncommon and occurs in 0.3–2.0 per cent of cases of facial palsy. Recurrent. simultaneous, bilateral, idiopathic facial palsy to the best of our knowledge has never been reported. A case of recurrent, simultaneous, bilateral, idiopathic facial palsy is presented. No evidence of systemic or local disease was found in both attacks of peripheral facial palsies. The association with states of stress is the only common finding between the two attacks.

Progressive Diaphyseal Dysplasia: Genetics and Clinical and Radiologic Manifestations

PEDIATRICS ◽  
1984 ◽  
Vol 74 (3) ◽  
pp. 399-405
Author(s):  
Yehezkel Naveh ◽  
Joseph K. Kaftori ◽  
Uri Alon ◽  
Jacob Ben-David ◽  
Moshe Berant
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Generation Family ◽  
Progressive Diaphyseal Dysplasia ◽  
Radiographic Screening ◽  
Osteosclerotic Dysplasia ◽  
Structural Deformity ◽  
Diaphyseal Dysplasia ◽  
Engelmann Disease

Progressive diaphyseal dysplasia was found in a three-generation family including 13 affected individuals, the largest family reported to date. Our study confirms that progressive diaphyseal dysplasia, also known as Engelmann's or Camurati-Engelmann disease, is an autosomal dominant disorder with variable osseous and muscular manifestations. Disease distribution among patients, within a given patient, or even in individual bones is unpredictable. The femur is the most commonly and severely affected bone and hence most useful for radiographic screening of possible patients. Radiographs provide a meaningful assessment of disease activity and extent. The severity of symptoms is generally proportionate to severity of involvement shown by roentgenography. Exophthalmos due to osteosclerotic dysplasia of the skull occurred in more than half of the patients with progressive diaphyseal dysplasia. Twelve-year follow-up of this family, with affected individuals ranging in age from 6 months to 12 years, indicates that progressive diaphyseal dysplasia may progress or become quiescent and be remarkably inactive despite advanced osteosclerosis and structural deformity.

MRI of the facial nerve in idiopathic facial palsy

1996 ◽  
Vol 6 (5) ◽  
pp. 631-636 ◽  
Author(s):  
I. Saatçi ◽  
F. Şahintürk ◽  
L. Sennaroğlu ◽  
F. Boyvat ◽  
B. Gürsel ◽  
...  
Keyword(s):  
Facial Nerve ◽  
Facial Palsy ◽  
Idiopathic Facial Palsy

Autosomal dominant Lewy body parkinsonism in a four-generation family

1994 ◽  
Vol 35 (1) ◽  
pp. 59-64 ◽  
Author(s):  
C. H. Waters ◽  
C. A. Miller
Keyword(s):  
Lewy Body ◽  
Autosomal Dominant ◽  
Generation Family

scholarly journals Copy number variation in MODY diabetes - Familial case presentation

2018 ◽  
Vol 2 (2) ◽  
pp. 73
Author(s):  
Naida Lojo-Kadric ◽  
Zelija Velija Asimi ◽  
Jasmin Ramic ◽  
Ksenija Radic ◽  
Lejla Pojskic
Keyword(s):  
Insulin Secretion ◽  
Copy Number ◽  
Autosomal Dominant ◽  
Single Gene ◽  
Maturity Onset Diabetes ◽  
Dominant Form ◽  
Case Presentation ◽  
Monogenic Diseases ◽  
Number Variation ◽  
Autosomal Dominant Form

MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion. There are several types of MODY, which are monogenic diseases, where mutations in a single gene are responsible for a particular type of MODY. Currently, there are eleven types of MODY, from which the most common types are MODY 2 and MODY 3 (with mutations on GCK and HNF1A genes, respectively). We identified very rare MODY 7 type of diabetes in three family members by MLPA analysis.

Idiopathic facial palsy and physical therapy: an intervention proposal following a review of practice

2011 ◽  
Vol 16 (4) ◽  
pp. 237-243 ◽  
Author(s):  
Margarida Ferreira ◽  
Paula Clara Santos ◽  
José Duarte
Keyword(s):  
Physical Therapy ◽  
Facial Palsy ◽  
Idiopathic Facial Palsy

scholarly journals The Genetic Control of Stoichiometry Underlying Autism

2020 ◽  
Vol 43 (1) ◽  
pp. 509-533 ◽  
Author(s):  
Robert B. Darnell
Keyword(s):  
Large Scale ◽  
Biochemical Analysis ◽  
Critical Role ◽  
Gene Mutations ◽  
Loss Of Function ◽  
Case Control Studies ◽  
Neurologic Disorder ◽  
Regulatory Variants ◽  
Whole Exome ◽  
Number Variation

Autism is a common and complex neurologic disorder whose scientific underpinnings have begun to be established in the past decade. The essence of this breakthrough has been a focus on families, where genetic analyses are strongest, versus large-scale, case-control studies. Autism genetics has progressed in parallel with technology, from analyses of copy number variation to whole-exome sequencing (WES) and whole-genome sequencing (WGS). Gene mutations causing complete loss of function account for perhaps one-third of cases, largely detected through WES. This limitation has increased interest in understanding the regulatory variants of genes that contribute in more subtle ways to the disorder. Strategies combining biochemical analysis of gene regulation, WGS analysis of the noncoding genome, and machine learning have begun to succeed. The emerging picture is that careful control of the amounts of transcription, mRNA, and proteins made by key brain genes—stoichiometry—plays a critical role in defining the clinical features of autism.

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