Tolosa-Hunt syndrome (THS) is a rare neurological disorder characterized by painful ophthalmoplegia due to idiopathic granulomatous inflammation of the cavernous sinus or orbital apex. This review aims to summarize recent advances in the etiology, diagnosis, and management of THS.
Background Resistance training for leg muscles is recommended for patients with postural tachycardia syndrome (POTS). However, no study has characterized the relationships between orthostatic symptoms, heart rate (HR) increase, and the mass of the lower leg muscle in patients with POTS. We sought to determine the relationships between the mass of the lower leg muscle, HR increase during the head-up tilt (HUT) test, and orthostatic symptoms in patients with POTS.
Methods We prospectively enrolled 42 patients with POTS who were older than 16 years. The muscle mass was estimated using bioelectrical impedance analysis. We used the International Physical Activity Questionnaire-Short Form to measure self-reported physical activity. All patients were asked to complete the Korean version of the Orthostatic Grading Scale (KOGS).
Results The HR increased during the HUT test by 38.7±7.88 beats/minutes. Both the HR increase during the HUT test and the total KOGS score were negatively correlated with the total metabolic equivalent of the task. The leg circumference and muscle mass were not correlated with the HR increase during the HUT test or the KOGS score.
Conclusions The leg circumference and muscle mass were not related to orthostatic symptoms in patients with POTS. Cardiac remodeling or blood volume increase may be responsible for improvement in POTS after physical activity.
Facial diplegia (FD) rarely occurs as a regional Guillain-Barré syndrome (GBS) variant. A 70-yearold male presented with bifacial weakness that had started on the left side and extended to the right after several days. He was then treated using steroids and gradually improved. Serum antiganglioside antibody testing revealed positivity for anti-GM1 IgG antibodies. FD can be idiopathic, but it is an uncommon GBS variant. The ganglioside antibody test may increase the possibility of diagnosing isolated FD.
A brain-computer interface (BCI) is a technology that acquires and analyzes electrical signals from the brain to control external devices. BCI technologies can generally be used to control a computer cursor, limb orthosis, or word processing. This technology can also be used as a neurological rehabilitation tool for people with poor motor control. We reviewed historical attempts and methods toward predicting arm movements using brain waves. In addition, representative studies of minimally invasive and noninvasive BCI were summarized.
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Dynamic decision-making framework for benchmarking brain–computer interface applications: a fuzzy-weighted zero-inconsistency method for consistent weights and VIKOR for stable rank Z. T. Al-qaysi, A. S. Albahri, M. A. Ahmed, Mahmood M. Salih Neural Computing and Applications.2024; 36(17): 10355. CrossRef
X-linked Charcot Marie Tooth disease type 1 (CMTX1) is a clinically heterogenous X-linked hereditary neuropathy caused by mutation of the gene encoding gap junction beta 1 protein (GJB1). Typical clinical manifestations of CMTX1 are progressive weakness or sensory disturbance due to peripheral neuropathy. However, there have been some CMTX1 cases with accompanying central nervous system (CNS) manifestations. We report the case of a genetically confirmed CMTX1 patient who presented recurrent transient CNS symptoms without any symptom or sign of peripheral nervous system involvement.
Hereditary spastic paraplegia (HSP) is a heterogeneous group of monogenic neurodegenerative disorders characterized by progressive spasticity of the lower limbs. The clinical features and imaging abnormalities vary greatly according to the affected genes. HSP is classified clinically as pure and complex forms, depending upon the presence or absence of additional neurological defects other than spastic lower limbs. Despite the recent advances in next-generation sequencing technology and its wide availability, a genetic diagnosis of HSP is still not made in more than half of all suspected cases of HSP. In this review, we summarized the various phenotypes of relatively common HSP in clinical practice according to the inheritance pattern, highlighting their clinical, radiological, and neurophysiological features. We further discussed the practical approach to patients with suspected HSP in the current era of next-generation sequencing.
In Guillain-Barré syndrome (GBS) and its variant, anti-GQ1b antibody has a pathogenic role for ophthalmoplegia. In addition, anti-GT1a antibody is related with lower cranial nerve involvement. This report describes a 60-year-old male patient with GBS manifesting with initially isolated dysphagia and subsequently developed ophthalmoplegia. Both immunoglobulin G type anti-GQ1b and anti-GT1a antibodies were detected in the patient’s serum. A mechanism regarding subsequent involvement of respective cranial nerves remains to be elucidated.
The most common form of autosomal recessive hereditary spastic paraplegia (HSP) is caused by mutations in SPG11/KIAA1840 gene, which encodes for spatacsin. The clinical presentation of SPG11 is characterized by cognitive impairment, peripheral neuropathy and a thin corpus callosum in brain magnetic resonance imaging. We identified a novel homozygous nonsense mutation (c.6082C>T [p.Q2028]) in exon 32 of SPG11 in Korean siblings. Our findings suggest that this novel homozygous mutation in SPG11 is associated with HSP and with dysgenesis of the corpus callosum.
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Hereditary Spastic Paraplegia Type 11—Clinical, Genetic and Neuroimaging Characteristics Justyna Chojdak-Łukasiewicz, Katarzyna Sulima, Anna Zimny, Marta Waliszewska-Prosół, Sławomir Budrewicz International Journal of Molecular Sciences.2023; 24(24): 17530. CrossRef
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Acute ophthalmoparesis that includes the oculomotor, trochlear, or abducens nerve may occur as an initial presentation of Miller Fisher syndrome (MFS). The symptoms of MFS or variant forms of Guillain-Barre syndrome are pathogenically related to anti-GQ1b antibodies. We report a case of a 36-year-old man with unilateral isolated abducens nerve palsy associated with anti-GM1 antibody. To the best of our knowledge, this is the first report of unilateral isolated abducens nerve palsy with positivity for anti-GM1 immunoglobulin M antibody.
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Ganglioside (GM1) Immunoglobulin G Antibody Chronic Bilateral Ophthalmoplegia Jesse Cheung, Saif Aldeen Alryalat, Osama Al Deyabat, Andrew G. Lee Journal of Neuro-Ophthalmology.2025; 45(1): e31. CrossRef
Isolated facial diplegia variant of Guillain–Barré syndrome with anti-GM1 IgG antibody Jin Ho Jung, Sukyoon Lee, Jung Hwa Seo, Jong Seok Bae, Kyong Jin Shin, Jong Kuk Kim, Byeol-A Yoon, Seong-il Oh Annals of Clinical Neurophysiology.2022; 24(1): 17. CrossRef
Idiopathic hypertrophic cranial pachymeningitis (ICHP) is diffuse inflammatory process of the dura mater. ICHP can produce similar presentation with Tolosa-Hunt syndrome (THS) if it involves cavernous sinus. A-29-year old male with persistent headache and no definite neurologic dysfunction was noted. Two weeks later, he complained of ophthalmoplegia, and his symptoms were thought to be manifestations of THS. Brain magnetic resonance images revealed diffuse thickened, enhanced pachymeninges in left tentorium. The patient was diagnosed with IHCP. We report a IHCP patient who showed very similar presentation as THS.
Hemiplegia cruciata (HC) manifests as paralysis of the ipsilateral arm and contralateral leg. Herein, we report a 64-year-old man with weakness of the right leg and of the left arm after multiple sclerosis (MS). His brain and spine magnetic resonance imaging show a lower medulla lesion, which is extended to posterior part of C1 spine through cervicomedullary junction. HC usually results from stroke or trauma, but it is rare as presenting symptom of MS.
Stroke remains a leading cause of death and disability. New rehabilitation therapies and approaches hold the promise of reducing the disability caused by stroke. Following stroke, the pattern of deficits and recovery, associated medical problems, and psychosocial factors vary among individuals, and it becomes critical to individualize rehabilitation program. Awareness of the pathophysiology and recovery patterns following stroke and attention to detail in medical and rehabilitative management enhance current functional outcome. The issues of when rehabilitation should begin, and what role rehabilitation should play acutely after stroke are changing rapidly. Based on studies demonstrating superior outcomes in programs that combine acute and rehabilitative care beginning immediately after stroke, many hospitals are developing practice protocols that require rehabilitation consultation and screening within 24 hours after stroke onset.
Background The purpose of this study is to evaluate the difference between the hemiplegic patients and controlswith the newly developed three demensional electrogoniometer gait analysis program.Methods: The basic kinematic data of hip, knee and ankle joints on the sagittal plane and of temporospatial gaitparameters were obtained from 25 hemiplegic patients and 25 healthy adults with three-dimensional electrogoniometerDomotionⓇResults: Significant difference were observed between patients and controls in kinematic parameters. Mean maximalhip flexion of healthy adults and hemiplegic limb of patient was 32.89
B a c k g r o u n d: The purpose of this study is to investigate the effect of the intensive functional electrical stimulation(FES) on the improvement of the gait pattern of the chronic hemiplegic patients. M e t h o d: Six hemiplegic patients, who could walk independently but have equinovarus deformity during the gait cycle, participated in this study. The affected peroneus longus and tibialis anterior muscles of all subjects were stimulated for 2 weeks period (20 minutes duration, 6 times/day). We measured the activities (mean voltage) of those muscles during the walking, using dynamic EMG. Results: After treatment, there were significant improvements in the strength of peroneus longus and tibialis anterior muscles and the gait speed, but there was no interval change of the spasticity of plantar flexor. The mean voltages of two muscles are significantly increased in all the patients (p<0.05). Conclusion: The results showed that the intensive FES on affected peroneus longus and tibialis anterior muscles in chronic hemiplegic patients could be useful for the improvement of functional gait.
Str?pell, in 1880, was the first to describe familial case of spastic paraplegia characterized by progressive weakness and spasticity of the lower limbs with little or no involvement of the upper extremities. This syndrome is heterogeneous in inheritance, age of onset, severity and associated signs. We present one family with autosomal dominant hereditary spastic paraplegia (HSP) due to SPG4 (spastin) gene mutation which is confirmed by genomic DNA isolated from peripheral blood.
Miller-Fisher syndrome, Guillain-Barre syndrome with ophthalmoplegia, Bickerstaff s brainstem encephalitis and acute ophthalmoplegia share some clinical features, and common anti-GQ1b IgG antibody and these are introduced as anti-GQ1b antibody syndrome. These syndromes mostly present with paralysis of extraocular muscles and internal ophthalmoplegia rarely occurs. We report a case of acute isolated bilateral internal ophthalmoplegia associated with anti-GQ1b IgG antibody.
Many neurologic signs are found in Miller Fisher syndrome (MFS) especially including pupillary abnormalities. But when internal ophthalmoparesis is first manifestation in MFS, diagnosis may be difficult in acute phase of illness. We report two cases of MFS presenting with internal ophthalmoplegia. Pupillary areflexia may be involved in acute phase of MFS. When acute bilateral internal ophthalmoparesis is encounted in clinical practice, initial manifestation of MFS should be included in differential diagnosis.
Acute paraplegia attributable to disc herniation is known to occur most frequently at the thoracic level. A 50-year-old male presented with progressive limb weakness and hypoactive deep tendon reflexes. On the basis of clinical features and neurological findings, the diagnosis of Guillain-Barre syndrome was suspected. Spinal MRI showed cervical disc herniation. He underwent emergency surgery consisting of removal of herniated disc and anterior fusion. We emphasize that there is a possibility of acute progression of paralysis secondary to nontraumatic enlargement of cervical disc herniation.
Background: While restless legs syndrome (RLS) is a common disorder, many patients are still remained undiagnosed and clinical data on Asian RLS patients is still limited in amount. Thus, we aimed to describe the clinical spectrum of Korean patients with RLS. Methods: We assessed the clinical characteristics of 77 consecutive RLS patients (43 men, mean age 59.1
Restless legs syndrome (RLS) is a sensorimotor neurological disorder in which the primary symptom is a compellingurge to move the legs, accompanied by unpleasant and disturbing sensations in the legs. Although pathophysiologicmechanism of RLS is still unclear, several evidences suggest that RLS is related to dysfunction in central nervous systeminvolving brain and spinal cord. L-DOPA, as the precursor of dopamine, as well as dopamine agonists, plays an essentialrole in the treatment of RLS leading to the assumption of a key role of dopamine function in the pathophysiology ofRLS. Patients with RLS have lower levels of dopamine in the substantia nigra and respond to iron administration. Iron,as a cofactor in dopamine production, plays a central role in the etiology of RLS. Functional neuroimaging studies usingPET and SPECT support a central striatal D2 receptor abnormality in the pathophysiology of RLS. Functional MRIsuggested a central generator of periodic limb movements during sleep (PLMs) in RLS. However, to date, we have nodirect evidence of pathogenic mechanisms of RLS.
The pathomechanisms involved in both restless legs syndrome (RLS) and complex regional pain syndrome type I(CRPS I) are still controversial whether they are central or peripheral origins. We recently encountered a patient whohad an unusual coexistence of both RLS and CRPS I, and both of which showed good responses to sympathetic block.These findings suggest the role of peripheral mechanisms, especially unmyelinated small autonomic fiber, in both RLSand CRPS I
Neuro-ophthalmological findings are common and occasionally prominent features in movement disorders. Accordingly,careful evaluation of the ocular motor functions may provide valuable information in early detection of the diseases andmonitoring of the progression. Furthermore, accurate assessment of the abnormal ocular motor findings aids in understandingthe pathophysiology and mechanisms of the movement disorders, and in their differential diagnosis. Ocular motility examinationshould include bedside evaluation and laboratory recording of the fixational abnormalities, saccades, smooth pursuit, thevestibulo-ocular reflex, optokinetic nystagmus, and vergence eye movements. In this review, we will discuss various ocularmotor findings in ataxia and parkinsonian syndromes, and hyperkinetic movement disorders.
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