A meta-analysis uncovers the first sequence variant conferring risk of Bell's palsy.

Bell's palsy is the most common cause of unilateral facial paralysis and is defined as an idiopathic and acute inability to control movements of the facial muscles on the affected side. While the pathogenesis remains unknown, previous studies have implicated post-viral inflammation and resulting compression of the facial nerve. Reported heritability estimates of 4-14% suggest a genetic component in the etiology and an autosomal dominant inheritance has been proposed. Here, we report findings from a meta-analysis of genome-wide association studies uncovering the first unequivocal association with Bell's palsy (rs9357446-A; P = 6.79 × 10-23, OR = 1.23; Ncases = 4714, Ncontrols = 1,011,520). The variant also confers risk of intervertebral disc disorders (P = 2.99 × 10-11, OR = 1.04) suggesting a common pathogenesis in part or a true pleiotropy.

A View of the Therapy for Bell's Palsy Based on Molecular Biological Analyses of Facial Muscles.

OBJECTIVE: Details regarding the molecular biological features of Bell's palsy have not been widely reported in textbooks. We genetically analyzed facial muscles and clarified these points. MATERIALS AND METHODS: We performed genetic analysis of facial muscle specimens from Japanese patients with severe (House-Brackmann facial nerve grading system V) and moderate (House-Brackmann facial nerve grading system III) dysfunction due to Bell's palsy. Microarray analysis of gene expression was performed using specimens from the healthy and affected sides, and gene expression was compared. Changes in gene expression were defined as an affected side/healthy side ratio of >1.5 or <0.5. RESULTS: We observed that the gene expression in Bell's palsy changes with the degree of facial nerve palsy. Especially, muscle, neuron, and energy category genes tended to fluctuate with the degree of facial nerve palsy. CONCLUSION: It is expected that this study will aid in the development of new treatments and diagnostic/prognostic markers based on the severity of facial nerve palsy.

Diagnosis and management of idiopathic facial palsy in children.

Idiopathic or Bell's palsy is an acute peripheral-nerve palsy involving the facial nerve. The disorder is quite infrequent under the age of 10 years. The proposed etiologies of Bell's palsy include ischemic neuropathy and vascular diseases. This case series presents five children with Bell's palsy. The epidemiologic, diagnostic and therapeutic measures were summarized. The evolution regarding especially the facial motricity was detailed. The results about the role of some thrombophilic polymorphisms suggest a probable involvement of factor V haplotype, MTHFR and factor XIII in the etiology of Bell's palsy in five Tunisian children.

Bell's palsy. A prospective, longitudinal, descriptive, and observational analysis of prognosis factors for recovery in Mexican patients.

OBJECTIVE: To determine the prognosis factors in Mexican patients with Bell's palsy. DESIGN: We designed a prospective, longitudinal, descriptive, and observational analysis. Two hundred and fifty one patients diagnosed with Bell's palsy at the National Institute of Rehabilitation were included. We studied the sociodemographic characteristics, seasonal occurrence, sidedness, symptoms, and therapeutic options to determine the prognostic factors for their recovery. RESULTS: Thirty-nine percent of patients had a complete recovery and 41.5% had an incomplete recovery. Marital status, gender, etiology, symptoms, sidedness, House-Brackmann grade, and treatments did not represent significant prognostic factors for recovery. Age > 40 years (OR = 2.4, IC 95% 1.3-4.3, p = 0.002) and lack of physical therapy (OR = 6.4, IC 95% 1.4-29.6, p = 0.006) were significant prognostic factors for incomplete recovery. Familial palsy resulted to be a protective prognostic factor against an incomplete recovery (OR = 0.54, IC 95% 0.28-1.01, p = 0.039). This protection factor was only significant in female patients (OR = 0.41, p = 0.22) but not in male patients (OR = 1.0, p = 0.61). CONCLUSIONS: The proportion of cases with incomplete recovery was high. The age > 40 years and lack of physical therapy were the only significant prognostic factors for an incomplete recovery.

Familial recurrent Bell's palsy.

Bell's palsy is a peripheral facial palsy of sudden onset. The etiology of Bell's palsy is unknown and hereditary components may play a role in familial recurrent Bell's palsy. We report three families in which eight patients had a total of 12 episodes of typical Bell's palsy. The pathophysiology of familial recurrent Bell's palsy is discussed.

A family with Parkinson disease, essential tremor, bell palsy, and parkin mutations.

BACKGROUND: Mutations in the parkin gene cause autosomal recessive early-onset Parkinson disease (EOPD). The A265G variant in the HS1 binding protein 3 gene (HS1BP3) is common in essential tremor (ET). OBJECTIVE: To investigate the presence of mutations in the parkin gene and the A265G variant in the HS1BP3 gene in a Mexican family with EOPD, ET, and Bell palsy. DESIGN: Direct sequencing, semiquantitative polymerase chain reaction, and reverse transcription-polymerase chain reaction were performed in the 14 members of this family. SETTING: Mexican family. Patients Two patients with EOPD were analyzed. RESULTS: Compound heterozygous mutations (EX 3_6 del and EX 5 del) in the parkin gene were identified in 2 patients with EOPD, characterized by beneficial response to levodopa, relatively slow progression, and motor complications. Although heterozygous EX 3_6 del and homozygous EX 5 del mutations in the parkin gene have been previously described, to our knowledge, this is the first report of these mutations in compound heterozygotes. Seven heterozygous A265G variants in the HS1BP3 gene were found in this pedigree, but they did not cosegregate with ET, Parkinson disease, or Bell palsy, supporting the conclusion that this variant is not associated with ET. CONCLUSIONS: Compound heterozygous parkin mutations (EX 3_6 del and EX 5 del) caused EOPD in this family, but the A265G variant in the HS1BP3 gene, previously considered to be responsible for ET, was probably not pathogenically related to the ET in this family.

Familial Bell's palsy in females: a phenotype with a predilection for eyelids and lacrimal gland.

The authors report a family with familial Bell's palsy affecting seven individuals, six of whom are females. This is a distinct subtype of Bell's palsy with a predilection for juvenile females, previously reported only very rarely. In conjunction with a review of the literature, this case suggests that this phenotype carries with it a greater risk of serious complications affecting the eyelids and lacrimal gland. These carry significant functional and cosmetic implications owing to aberrant regeneration of the seventh, sixth and possibly third cranial nerves, chronicity and relapses. Clinical features include synkinesis of the eyelids with the orbicularis oris causing synkinetic ptosis, recurrent paralytic ectropion, paralysis of facial muscles of expression with dry eye, hyperlacrimation (crocodile tears), and transient strabismus. Clinically, the decision to offer surgery in place of conservative treatment should consider the natural history of chronicity and relapses often seen with this subtype of familial Bell's palsy. Botulinum toxin injections are especially versatile in managing the complications associated with this phenotype.

Recurrent idiopathic familial facial nerve palsy and ophthalmoplegia.

INTRODUCTION: Idiopathic facial nerve palsy is a common neurologic condition but episodes of ophthalmoplegia in these patients are uncommon. MATERIALS AND METHODS: Retrospective case series. RESULTS: Three patients with facial nerve palsy with unusual features, including ophthalmoplegia, are described. CONCLUSION: Recurrent episodes, familial tendency, and associated ophthalmoplegia are uncommon in patients with idiopathic facial nerve palsy.