Idiopathic hypertrophic pachymeningitis (IHP) is a rare disease involving localized inflammatory thickening of the intracranial or spinal dura mater without an identified cause. Seizure is a very unusual presentation of IHP. We present a 58-year-old-female patient with seizures caused by IHP. This case indicates that although IHP is rare, it has the potential to cause seizures.

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.

Citations

• 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

Background
The standardized autonomic function test has become widely available. However, there are no reference data for this test for the Korean population. This study explored reference data for sudomotor and cardiovagal function tests for the Korean population.
Methods
The sweat volume by quantitative sudomotor axon reflex test, heart-rate response to deep breathing (HRdb), expiration:inspiration (E:I) ratio, and Valsalva ratio (VR) were measured in 297 healthy Korean volunteers aged from 20 to 69 years. Multivariate regression analysis was performed to evaluate the effects of age, sex, and body mass index on these variables. The 2.5th, 5th, 10th, 90th, 95th, and 97.5th percentile values were obtained for each investigation.
Results
The sweat volume was higher in males than in females. The HRdb and E:I ratio were negatively correlated with age, and were higher in males than in females. The VR was negatively correlated with age, but it was not correlated with sex.
Conclusions
This study has provided data on the reference ranges for sudomotor and cardiovagal function tests in healthy Korean adults.

Citations

• Abnormal quantitative sudomotor axon reflex test results in patients with tinnitus as a possible indicator of small fiber neuropathy
  Hye Lim Lee, Hyun Ji Lyou, Jae-Jun Song, Chi Kyung Kim
  Frontiers in Neurology.2024;[Epub]     CrossRef
• Generalized anhidrosis with preganglionic sudomotor dysfunction in Fabry disease: a case report
  Eun Bin Cho, Seung Joo Kim, Tae-Won Yang, Heejeong Jeong, Changhyo Yoon, Seunguk Jung, Ki-Jong Park
  Clinical Autonomic Research.2021; 31(4): 585.     CrossRef
• Interpretation of Autonomic Function Test
  Kee Hong Park, Eun Hee Sohn
  Journal of the Korean Neurological Association.2021; 39(2): 61.     CrossRef

Axonal Charcot-Marie-Tooth disease (CMT2) has most frequently been associated with mutations in the MFN2 gene. MFN2 encodes mitofusin 2, which is a mitochondrial fusion protein that plays an essential role in mitochondrial function. We report CMT2 in a Korean father and his son that manifested with gait difficulties and progressive atrophy of the lower legs. Molecular analysis revealed a novel heterozygous c.2096T>C (p.Leu699Pro) mutation in the exon 18 of MFN2 in both subjects. We suggest that this novel mutation in MFN2 is probably a pathogenic mutation for CMT2.

Background
Postural tachycardia syndrome (POTS) refers to the presence of orthostatic intolerance symptoms associated with a heart rate increment of greater than 30 beats/min, usually up to 120 beats/min, on head-up tilt test. Symptoms related to POTS are usually lightheadedness, palpitations and tremor, but syncope can also occur. The pathophysiology of POTS is heterogeneous and its prognosis is uncertain.
Methods
We prospectively evaluated patients who met the criteria for POTS, at baseline and follow-up, using composite autonomic symptom scores and autonomic tests to assess the autonomic function. We compared the clinical and autonomic test results between baseline and follow-up.
Results
Sixty-eight patients met the inclusion criteria for POTS and forty-five patients were ultimately followed up for at least 1 year after baseline. The patients were predominantly young females (84%), with a mean age of 21 years. Most patients showed improved orthostatic symptoms and more than a quarter of patients had no longer met the criteria for POTS at follow-up.
Conclusions
Most patients had a benign outcome in that they could resume their daily activities without great limitations. Our results demonstrated a relatively favorable prognosis in most patients with POTS.

Citations

• Long‐Term POTS Outcomes Survey: Diagnosis, Therapy, and Clinical Outcomes
  Jeffrey R. Boris, Edward C. Shadiack, Elizabeth M. McCormick, Laura MacMullen, Ibrahim George‐Sankoh, Marni J. Falk
  Journal of the American Heart Association.2024;[Epub]     CrossRef

Distal acquired demyelinating symmetric (DADS) neuropathy is a variant form of chronic inflammatory demyelinating polyradiculoneuropathy. A 54-year-old man presented with gait disturbance owing to weakness in both legs. Nerve conduction studies showed demyelinating sensorimotor polyneuropathy, and laboratory studies demonstrated anti-GM1 and anti-GD1b IgG antibodies, but no anti-myelin associated glycoprotein activity. We suggest that an antiganglioside antibodies assay needs to be applied when DADS neuropathy is suspected in order to improve the classification of dysimmune neuropathies.

A 69-year-old woman presented with a progressive limb weakness. Both clinical and neurophysiological findings were consistent with diagnosis of Guillain-Barré syndrome (GBS). Two days after admission, the patient suffered from an acute coronary syndrome without stenosis at coronary arteriography. Echocardiography revealed left ventricular inferior wall and apical akinesia and decreased ejection fraction. A diagnosis of Takotsubo cardiomyopathy was then made. Left ventricular dysfunction and electrocardiography normalized within one month. Takotsubo cardiomyopathy can be developed as a complication of GBS.

Citations

• Takotsubo Cardiomyopathy: A Possible Rare Complication of Guillain-Barré Syndrome
  Khalid H Mohamed, Adetola F Oshikoya, Kapil Kumar, Chinyere L Anigbo, Polasu Sri Satya Sai Prashanth , Alaa S Mohamed, Muhammad Haseeb, Hira Nasir
  Cureus.2023;[Epub]     CrossRef
• Takotsubo Cardiomyopathy as a Manifestation of Dysautonomia in Guillain-Barré Syndrome: A Case Series and Review of the Literature
  Dyanet Puentes, Daniela Teijelo, Tamara S Stiep, Sishir Mannava, Jason Margolesky
  Cureus.2021;[Epub]     CrossRef

Citations

• Progressive Bulbar Palsy with Facial Diplegia and Proximal Weakness Diagnosed as Juvenile-Onset Myasthenia Gravis
  Rajesh Verma, Rajarshi Chakraborty, Pooja Tripathi
  Annals of Indian Academy of Neurology.2023; 26(4): 589.     CrossRef

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.

Herpes zoster can involve the variable peripheral nervous system but there have been few reports about plexopathy by the herpes zoster. We report a 54-year-old man with left leg weakness soon after herpes zoster in the left leg. His electrophysiological findings were consistent with the left lower lumbosacral plexopathy. It was concluded that herpeszoster can be considered to be one of the rare causes of the lumbosacral plexopathy.

The symptomatology of suprascapular neuropathy is variable, depending principally on the etiology and location of the lesion. Among them, suprascapular nerve entrapment with isolated paralysis of the infraspinatus muscle is uncommon. We report a 27-year-old man presenting with right arm weakness. Based on the electrophysiologic and imaging findings, suprascapular neuropathy at the spinoglenoid notch due to cystic mass lesion was diagnosed.

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Hereditary spastic paraplegia is a heterogeneous group of genetic disorders in which the main feature is progressive spasticity and lower extremity weakness. A 37-year-old man presented with progressive gait disturbance and he had a family history consistent with autosomal dominant inheritance. Gene testing revealed a nonsense mutation (c.1702C>T [p.Arg562Term]) in SPAST gene. We report a first Korean family with Arg562Term mutation in SPAST gene.

Tarsal tunnel syndrome is an entrapment neuropathy and relatively uncommon disease. A 56-year-old male complained of numbness and tingling sense affecting the plantar region of his right foot. Nerve conduction study showed slow conduction velocity and low amplitude on right medial plantar nerve. Ultrasonography showed ganglion which compressed posterior tibial nerve and his symptoms improved after surgical removal.

Background
In general, motor neuron disease comprises combined upper and lower motor neuron diseases, pure lower motor neuron diseases and pure upper motor neuron diseases. The term lower motor neuron disease (LMND) may be used for all diseases in which only lower motor neuron signs are found. Methods: In this study, we investigated clinical and electrophysiological features in patients with sporadic LMND. In order to exclude patients who had amyotrophic lateral sclerosis, only patients who had had the disease for at least 4 years were selected. The patients were then classified into three groups based on the identified pattern of weakness as shown in the registry. Results: The patients with LMND were categorized into groups of generalized weakness (group 1, two patients), asymmetrical weakness of the arms (group 2, 31 patients) and asymmetrical weakness of the legs (group 3, four patients). Analysis of the results showed that the distinguished features of group 1 include, an older age at onset of the disease, more severe weakness and greater functional impairment. In addition, the results also show that the prognosis of sporadic LMND seems to be favorable and clinical abnormalities were confined to one or two limbs in most patients classified by group 2 and 3. Conclusions: The clinical phenotypes of the different subgroups described in this study may help to differentiate the several forms of LMND. Prospective studies are however needed to investigate whether specific clinical or electrophysiological variables may help to identify patients with a more benign form of LMND.