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PubMed1988

Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers.

Autopsy cases of two brothers with bulbo-spinal muscular atrophy associated with gynecomastia, testicular atrophy and sensory neuropathy are reported. The disease started with finger tremor, proximal muscle weakness and facial muscle twitching at the second and fourth decades, accompanied by bulbar signs and glove-stocking type sensory disturbance. Systemic neurogenic patterns and diminished sensory nerve action potential amplitudes were recorded by electrophysiological studies. A marked loss of myelinated fibers was noticed upon sural nerve biopsy. Gonadal hormone values were normal, except for elevated urinary estrogen. Postmortem examinations revealed a remarkable degeneration of the facial and hypoglossal nuclei, and the spinal cord motoneurons. The skeletal muscles and the tongue showed neurogenic muscular atrophy with fatty replacement. Testicular atrophy was prominent showing hyalinized seminiferous tubuli with nodular and diffuse Leydig cell hyperplasia, containing estrogen immunoreactive substance. These clinical and histological features seemed to be highly compatible with those of Kennedy-Alter-Sung type bulbo-spinal muscular atrophy. The involvement of sensory peripheral nerves, however, was a distinct feature of this family.

Aged↗

PubMed2000

Unconscious facial reactions to emotional facial expressions.

Studies reveal that when people are exposed to emotional facial expressions, they spontaneously react with distinct facial electromyographic (EMG) reactions in emotion-relevant facial muscles. These reactions reflect, in part, a tendency to mimic the facial stimuli. We investigated whether corresponding facial reactions can be elicited when people are unconsciously exposed to happy and angry facial expressions. Through use of the backward-masking technique, the subjects were prevented from consciously perceiving 30-ms exposures of happy, neutral, and angry target faces, which immediately were followed and masked by neutral faces. Despite the fact that exposure to happy and angry faces was unconscious, the subjects reacted with distinct facial muscle reactions that corresponded to the happy and angry stimulus faces. Our results show that both positive and negative emotional reactions can be unconsciously evoked, and particularly that important aspects of emotional face-to-face communication can occur on an unconscious level.

Adult↗

PubMed1996

F-wave in patients with hemifacial spasm: observations during microvascular decompression operations.

In patients with hemifacial spasm (HFS), the spasm is due to cross compression of the facial nerve by a blood vessel. There are currently two hypotheses how the cross compression can cause HFS: 1. the spasm is caused by ephaptic transmission and hyperexcitability at the site of compression; and 2. the spasm is caused by hyperexcitability in the facial motonucleus. In peripheral nerves, F-waves, which result from the backfiring of antidromically activated anterior horn cells, have been proposed as indices of anterior horn cell excitability. Enhancement of the F-waves in facial muscles also indicates increased excitability of the facial motonucleus. On the other hand, abnormal muscle response (AMR), which can be elicited by stimulating one branch of the facial nerve and recording electromyographically from muscles innervated by other branches of the facial nerve, is specific for patients with HFS. We have therefore measured the AMRs and the F-waves in the facial muscle of HFS patients under anesthesia in order to investigate the excitability of the facial motonucleus. We obtained facial nerve evoked electromyograms from 14 HFS patients during microvascular decompression (MVD) operation. The F-waves, obtained with surface electrodes from the mentalis muscle, were defined as the second response after the M-wave. The F-waves in facial muscles cannot usually be elicited during surgical anesthesia using inhalation anesthetics. However, the F-waves were elicited on the spasm side in 10 out of 14 patients with HFS and the F-waves disappeared after MVD under anesthesia, as the early responses (R1) of the blink reflex were elicited on the spasm side before MVD under anesthesia. The F-waves elicited during anesthesia were suppressed significantly, compared with those before MVD. These results suggest that excitability in facial motonucleus increased on the spasm side.

Electric Stimulation↗

PubMed1990

[Facial nerve preservation in the region of the zygomatic arch].

In order to preserve the frontotemporal branch of the facial nerve in frontotemporal and trans-zygomatic craniotomies, electromyographic responses from the facial muscles were recorded preoperatively. Incising the frontotemporal branch of the facial nerve could be avoided by identifying the crossing point of the frontotemporal branch of the facial nerve on the superior border of the zygomatic arch. The crossing points were investigated in 20 patients and in most cases they existed between 2 cm and 6 cm from the anterior border of the external auditory canal. Another important point to preserve the facial nerve is to conserve the layer in which the facial nerve is included. Therefore, the surgical anatomy in the region of the zygomatic arch and temporal area was reviewed in detail. This knowledge is crucial for neurosurgeons to dissect precisely in this region without causing postoperative facial palsy.

Craniotomy↗

PubMedDate not supplied

Hemifacial spasm caused by a tortuous vertebral artery: MR demonstration.

Hemifacial spasm is a symptom complex comprising involuntary, painless spasms of the orbicularis muscle that may progress to involve all facial muscles. It is frequently the result of compression of the facial nerve at its root exit zone from the brain stem by vascular loops or aneurysms of the posterior inferior cerebellar artery, anterior inferior cerebellar artery, vertebral artery, or cochlear artery. Coronal and axial T1-weighted images clearly depict the course of the facial nerve from the brain stem to the internal auditory canal and its relation to the vertebrobasilar system. This case demonstrates the magnetic resonance appearance of a tortuous vertebral artery and its relationship to the facial nerve in a patient with long standing hemifacial spasm.

Aged↗

PubMed1991

Facial nerve monitoring by monopolar low constant current stimulation during acoustic neurinoma surgery.

Electrophysiological characteristics of monopolar low constant current stimulation, and evoked facial muscle responses to such stimulation, were evaluated in 34 cases of acoustic neurinoma. Our study, using stimulus parameters of 0.1-ms-duration pulse wave with 0.5-0.6 mA intensity, revealed that extent of spreading current depends on the current intensity, being about 1 mm from the electrode with 0.5-0.6 mA, and insulation of the electrode prevented the current from spreading through the cerebrospinal fluid, giving a reliable amount of current to the tissue. Evoked facial muscle responses to facial nerve stimulation in the internal auditory meatus and over the pons were analyzed and revealed the following: (1) The responses to stimulation in the internal auditory meatus showed no amplitude attenuation throughout the operation. (2) The responses to stimulation over the pons gradually decreased in amplitude as tumor dissection from the nerve proceeded, especially in large tumors. (3) Anatomical continuity of the nerve was obtained in 100% of small, 91.7% of medium, and 88.2% of large tumors. Our data show that monopolar low constant current stimulation is effective in obtaining the precise anatomical orientation of the facial nerve during tumor removal.

Electric Stimulation↗

PubMed1990

Aberrant regeneration in a case of syringobulbia: selective co-activation of abducens and facial nerves during saccades.

A patient suffering from syringobulbia and syringomyelia exhibited a phasic contraction of the ipsilateral facial muscles, mainly the levator labii, whenever he looked to the left or right. Facial muscle twitches occurred exclusively with saccades. The selective co-activation of abducens and facial nerves is interpreted as the result of bilateral misrouting of regenerating neurons from the parapontine reticular formation to the facial nerve in the tegmentum pontis.

Abducens Nerve↗

PubMed2004

Communication between the buccal nerve (V) and facial nerve (VII) in the human face.

Terminal arrangements of communicating branches between the buccal nerve (V) and the facial nerve (VII) have yet to be precisely determined. To clarify distributions and relationships to facial muscles, detailed morphological examination of the two nerves was performed in the buccal region. The facial skin and underlying tissues of three cadavers were removed en bloc from the surface of the skulls and dissected from outside and inside. Arrangements of the facial muscles, nerves, and associated structures were observed. In all specimens, the communicating buccal nerve (CBN) was detected, largely covering the buccal region. The CBN gave off multidirectional twigs around the facial vein, some of which reached the anterior part of the zygomaticus major muscle. Several twigs of the CBN joined proximally with the zygomatic and buccal branches of the facial nerve. Ramified junctions that interconnected the lower zygomatic and upper buccal branches of the facial nerve were observed near sites where the CBN joined. Anterior twigs of the CBN supplied the longitudinal area lateral to the mouth, where many muscles converged. This study presents a precise morphological pattern of the CBN, suggesting functional contribution of the CBN to control of orofacial movements.

Aged↗

PubMed1998

Nasal muscle F-wave for peri- and intraoperative diagnosis of facial nerve function.

A new method for recording F-waves from facial muscles in order to assess the function of the intracranial and intracanalicular portion of the facial nerve peri- and intraoperatively has been developed: Direct (M) and F-responses were obtained from the nasal muscle after stimulation of the zygomatic branch of the facial nerve of healthy volunteers. We examined a number of patients with likely or obvious dysfunction of the facial nerve, mostly suffering from cerebellopontine angle (CPA) tumors. F-wave findings were compared to blink reflex and transcranial magnetoelectric evoked potential recordings, the latter obtained from the nasal muscle. The F-wave turned out to be a sensitive parameter for the diagnosis of facial nerve dysfunction. The feasibility of intraoperative nasal muscle F-wave recording and its prognostic value are demonstrated. The nasal muscle F-wave is considered to be a valid parameter for the diagnosis of clinically imperceptible facial nerve lesions, especially of its intracranial portion.

Brain Diseases↗

PubMed2006

Dynamics of facial expression: recognition of facial actions and their temporal segments from face profile image sequences.

Automatic analysis of human facial expression is a challenging problem with many applications. Most of the existing automated systems for facial expression analysis attempt to recognize a few prototypic emotional expressions, such as anger and happiness. Instead of representing another approach to machine analysis of prototypic facial expressions of emotion, the method presented in this paper attempts to handle a large range of human facial behavior by recognizing facial muscle actions that produce expressions. Virtually all of the existing vision systems for facial muscle action detection deal only with frontal-view face images and cannot handle temporal dynamics of facial actions. In this paper, we present a system for automatic recognition of facial action units (AUs) and their temporal models from long, profile-view face image sequences. We exploit particle filtering to track 15 facial points in an input face-profile sequence, and we introduce facial-action-dynamics recognition from continuous video input using temporal rules. The algorithm performs both automatic segmentation of an input video into facial expressions pictured and recognition of temporal segments (i.e., onset, apex, offset) of 27 AUs occurring alone or in a combination in the input face-profile video. A recognition rate of 87% is achieved.

Algorithms↗

PubMed1982

Alternate innervations of facial musculature.

There have been several case reports in which spontaneous return of facial function has occurred without grafting or other surgical intervention. This implies that there may be alternate pathways to explain this phenomenon. Using the technique of retrograde axonal transport with chromogens tagged to the marker enzyme horseradish peroxidase, selected facial muscles of the monkey were injected to demonstrate CNS representation. The facial nucleus was identified, exhibiting topographic arrangement in the CNS. More importantly, in several specimens, nuclear cells of the mesencephalic tract also were stained. This is part of the trigeminal system, normally associated with proprioception, whose axons travel with other fifth cranial nerve branches. The trigeminal motor nucleus did not exhibit any pickup of the enzyme marker, indicating that there was no contamination from facial musculature innervated by the fifth cranial nerve. This finding suggests that the facial musculature, normally innervated by the seventh cranial nerve, has an additional nerve supply.

Animals↗

PubMed1997

Targeted transduction of CNS neurons with adenoviral vectors carrying neurotrophic factor genes confers neuroprotection that exceeds the transduced population.

Application of neurotrophic factors (NFs) to the cut stump of motor nerves of neonatal rats confers neuroprotection from trauma-induced neuronal death. To test whether motoneurons are capable of responding to endogenously produced NFs, facial motoneurons were genetically modified in vivo to express several NFs and then tested for their response to peripheral nerve damage. Replication-defective adenoviral vectors [Adv. Rous sarcoma virus (RSV)-nf] representing three families of NFs were constructed that carried genes for brain-derived neurotrophic factor (BDNF), ciliary neurotrophic factor (CNTF), glial cell-derived neurotrophic factor (GDNF), and nerve growth factor. Media from cultured cells transduced with Adv. RSV-nf contained NFs that supported the survival of cultured chick sensory neurons in the same manner as recombinant NF standards. When Adv.RSV-nf or an adenoviral vector containing the beta-galactosidase gene (Adv.RSV-beta-gal) were injected into the facial muscles of neonatal rats the vectors were retrogradely transported to the facial nucleus where the NFs or beta-gal were expressed. A fraction (approximately 10%) of the neurons were transduced as demonstrated by reverse transcriptase-PCR, histochemistry, and immunocytochemistry. In the case of Adv.RSV-BDNF, Adv.RSV-CNTF, and Adv.RSV-GDNF, a significant portion of the facial nucleus neurons was protected, 16.5, 18.2, and 53.3%, respectively, from death after axotomy, showing that neurons are capable of transporting the Adv. RSV-nf, expressing the recombinant NF genes, and responding to the NFs. In the case of Adv.RSV-GDNF, a greater number of facial nucleus motoneurons survived than were transduced, indicating that neighboring untransduced neurons were protected by the GDNF expressed by the transduced neurons by a paracrine mechanism.

Adenoviridae↗

PubMed1985

[Synchronized hemifacial spasm induced by sound stimulation].

A 42-year-old woman whose hemifacial spasm develops not only involuntarily but also synchronously to the sound stimulation to the left ear is presented. She had about 10 years history of left hemifacial spasm which occurred only involuntarily, and she was treated successfully by microvascular decompression method on June 1982. She had been uneventful and free from facial spasm until around January 1983, about 7 months after the first surgery, when her hemifacial spasm recurred and interestingly enough, this spasm started to occur not only involuntary but also synchronously to stimulation of the sound. On her electromyography (EMG) of the face, high amplitude discharge were noted sporadically during her facial muscle twitching, but more constant and regular high amplitude discharge on EMG were also evoked invariably and synchronously with the sound stimulation which was induced by 90 dB click sound and once this sound stimulation discontinued her facial muscle twitching ceased and abnormal discharge of EMG which appeared with sound stimulation disappeared instantly. On March 18, 1983, her left posterior fossa was explored and another angled artery was found compressing the facial nerve just at the root entry zone, more proximally than the previous site where the nerve was found compressed and decompressed at the first surgery. After complete replacement of this offending artery from the nerve, her facial spasm disappeared completely and was never evoked by the sound stimulation. Her postoperative EMG revealed no abnormal discharges at all after the sound stimulation by click sound in the ear.(ABSTRACT TRUNCATED AT 250 WORDS)

Acoustic Stimulation↗

PubMed1990

Musculotopic organization of the facial motor nucleus in Macaca fascicularis: a morphometric and retrograde tracing study with cholera toxin B-HRP.

Morphometric and retrograde tracing methods were used to determine the location and number of motoneurons innervating individual facial muscles in Macaca fascicularis. Intramuscular injections of the cholera toxin B subunit-horseradish peroxidase conjugate produced discrete labeling patterns in the ipsilateral facial motor nucleus with good definition of somata and their processes. The facial nucleus extended rostrocaudally in the pons for about 2 mm, varying in shape and cross-sectional area along this axis. Motoneurons were clustered in subnuclei, but their boundaries were not sharp and they were not segregated by fiber bundles. The length, number, and area of subnuclei varied with rostrocaudal location. Retrograde labeling patterns revealed that individual muscles were innervated by longitudinal columns of motoneurons with each muscle region represented at all rostrocaudal levels of its column. The columns began at different rostrocaudal levels and varied in length. Columns for closely related muscles, such as the orbicularis oris and mentalis of the lower lip, tended to overlap, whereas columns for disparate muscles, such as the perioral and orbital, did not overlap. The dendritic processes of most motoneurons branched extensively among several different columns or subnuclei. Some dendrites extended outside of the nucleus into the surrounding tegmentum. Mean soma diameter (10.4-42.2 microns) was distributed unimodally, reflecting the absence of gamma motoneurons and lack of muscle spindles in the facial muscles. Large and small motoneurons were found in all regions of the nucleus, but the largest ones were located caudally and innervated muscles of the upper and lower lip. The perioral muscles also had more neurons, longer columns, and a lower cell density than the other muscle groups examined. These features may reflect the functions of the perioral muscles in facial expression and vocalization.

Animals↗

PubMed2005

MuSK antibody positive myasthenia gravis plasma modifies MURF-1 expression in C2C12 cultures and mouse muscle in vivo.

MG is an antibody-mediated disease that is often treated with corticosteroids. Antibodies to the muscle specific tyrosine kinase (MuSK) have been identified in a proportion of patients with myasthenia gravis (MG) without acetylcholine receptor (AChR) antibodies. MuSK-MG patients often suffer from marked facial muscle weakness, and some patients develop facial and tongue muscle atrophy. MuSK is a receptor tyrosine kinase that plays an essential role during development and is thought to play a trophic role in mature muscle. It is possible, therefore, that the muscle atrophy results from the action of the MuSK antibodies themselves, but effects of corticosteroids on muscle might also be involved. Muscle atrophy in vivo is associated with upregulation of striated Muscle RING-Finger protein-1 (MURF-1), and MURF-1 is also upregulated in C2C12 myotubes exposed to the corticosteroid, dexamethasone (Dex). Here we investigated the effects of MuSK antibodies or Dex on MURF-1 expression in C2C12 cultures and in mouse muscles after treatment in vivo, using quantitative Western blotting. We also looked at expression of neural cell adhesion molecule (NCAM, CD56) that is upregulated after denervation in vivo. MuSK-MG plasma and purified IgG from a patient with marked muscle atrophy modestly increased MURF-1 expression in C2C12 cells in culture, and MURF-1 expression in mouse masseter (facial) muscle, but not in gastrocnemius (leg). Dex had a more marked effect on MURF-1 expression in C2C12 cells, but did not affect MURF-1 expression in either muscle. However, both in C2C12 cells and in vivo, Dex substantially reduced NCAM expression. These results provide the first evidence that MuSK-MG plasma can influence expression of an atrophy-related protein, and preliminary evidence that a facial muscle, the masseter, is more susceptible to this effect. They indicate the need for further studies on muscle atrophy, MuSK-MG antibodies, the effects of steroids, and the intracellular pathways involved.

Animals↗

PubMedDate not supplied

MRI of unilateral facial hypertrophy.

Unilateral hypertrophy of facial muscles is an uncommon phenomenon with few reported cases in the worldwide literature. The few that have been reported have usually been associated with accompanying disease processes and clinical findings. In this paper, we describe a case of idiopathic hemihypertrophy of facial muscles and the MRI findings which were seen in this case.

Facial Muscles↗

PubMed1992

Treatment of idiopathic hemifacial spasm with botulinum toxin.

Twelve patients with idiopathic hemifacial spasm received treatment with botulinum toxin A over a period of 18 months. Of 76 treatments given, most (94.7%) led to successful relief of eyelid spasms and all treatments were successful for perioral and lower facial muscle spasms. An average dose of 9.3 units of toxin per session was given to produce a mean interval of relief of 10.8 weeks. Blepharoptosis was the only ocular side effect; it was mild, reversible and occurred in 2 patients. However, lower facial palsy was frequent (9 patients); it was mild to moderate in severity but only partially reversible in 8 patients. Dosage for lower facial muscles should therefore be reduced.

Adult↗

PubMedDate not supplied

Biofeedback training and relaxation exercises for treatment of temporomandibular joint dysfunction.

Biofeedback training involves electromyographic recording of the patient's level of facial muscle tension with concurrent presentation of that level to the patient in a visual or auditory manner. The objective of biofeedback training in patients with temporomandibular joint dysfunction is to provide them with an insight into abnormal facial muscle activities, which include clenching and grinding of the teeth and lip- and cheek-biting habits. This insight coupled with relaxation programs affords the patient an opportunity to eliminate abnormal behavior patterns that foster temporomandibular joint symptomatology.

Adult↗