J Korean Neurosurg Soc.  2013 Jan;53(1):1-5. 10.3340/jkns.2013.53.1.1.

Microvascular Decompression for Familial Hemifacial Spasm : Single Institute Experience

• Park JH
• Jo KI
• Lee HS
• Lee JA
• Park K

• KMID: 2066977
• DOI: http://doi.org/10.3340/jkns.2013.53.1.1

Abstract

OBJECTIVE
The purpose of this study was to evaluate the characteristics and surgical outcomes of familial hemifacial spasm (HFS) and to discuss the role of genetic susceptibility.
METHODS
Between 2001 and 2011, 20 familial HFS patients with ten different pedigrees visited our hospital. The data from comprehensive evaluation of these patients, including clinical, radiological and electrophysiological data and surgical outcomes were reviewed to characterize familial HFS and to compare the characteristics between familial HFS and sporadic HFS.
RESULTS
According to the family tree, the inheritance pattern was difficult to define clearly using these data. Radiologic findings suggested that the vertebral artery (VA) was a more frequent offender in familial HFS than in sporadic cases (35.0% vs. 10.0%, p<0.001). Chi-square test showed that there were no correlation between VA tortuosity and underlying morbidity such as diabetes or hypertension (p=0.391). Eighteen out of 19 patients who underwent microvascular decompression showed no residual spasm. Other features of familial HFS overlap with sporadic cases. These findings suggest that certain genetic susceptibilities rather than hypertension or diabetes may influence vascular tortuosity and HFS development.
CONCLUSION
In this study, familial HFS seems not so different from sporadic cases. Authors thought familial HFS could have heterogeneous etiology. Further study of familial HFS including clinical, anatomic, genetic, and molecular information may help identify a gene or trait that can provide insight into the mechanisms of sporadic and familial HFS.

Keyword

Hemifacial spasm; Familial; Microvascular decompression; Neurovascular conflict

MeSH Terms

Criminals
Genes, vif
Genetic Predisposition to Disease
Hemifacial Spasm
Humans
Hypertension
Inheritance Patterns
Microvascular Decompression Surgery
Pedigree
Spasm
Vertebral Artery

Figure

• 

  Fig. 1 A : A tortuous vertebral artery toward the lesion side (Fig. 3B; #patient). B : A relatively symmetrical vertebral artery to form the basilar artery in the midline (Fig. 3a; *patient) are observed on magnetic resonance angiography.

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  Fig. 2 Magnetic resonance imaging (T-2 weighted axial section through the root axis zone). A : The vertebral artery distorts the root axis zone (dashed arrow, Fig. 3B; #patient). B : The anterior inferior cerebellar artery contacts the root axis zone (solid arrow, Fig. 3A; *patient).

• 

  Fig. 3 Pedigrees of familial hemifacial spasm (HFS) patients. Circles and squares indicate females and males, respectively. Patients with HFS are indicated by black squares and black circles. The number on the upper left side indicates age at symptom onset, and the number on the lower right side is the morphological grade of the vertebrobasilar artery (Table 2). The letter on the left lower side corresponds to the symptomatic side. Images for participants marked with an asterisk or sharp are shown in Fig. 1 and 2.

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