Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by the degeneration of upper motor neurons in the brainstem and spinal cord and lower motor neurons. ALS was first described by Jean-Martin Charcot in 1874 based on clinical features and postmortem examinations. In 1990, the first diagnostic criteria for ALS were developed based on clinical features. Subsequently, three additional diagnostic criteria were published. In this article, we introduce the clinical features, diagnostic criteria, and diseases that need to be differentiated in ALS.

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathy caused by (GCN) expansions in the polyalanine binding protein nuclear 1 gene (PABPN1) located on chromosome 14q11. This study reports a case of an incomplete clinical characteristics of OPMD with heterozygous (GCN)11 expansion. A fifty-nine-year-old Korean woman was suffering from non-progressive dysarthria, dysphagia for five years. Neurologic findings were unremarkable except for tongue atrophy and mild ptosis. A genetic screening confirmed heterozygous (GCN)11 expansion in the PABPN1 gene.

Background
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive motor neuron degeneration with phenotypic heterogeneity, including age at onset. Juvenile ALS (JALS) includes ALS patients aged less than 25 years who typically show slow progression. This study aimed to identify the characteristics of juvenile ALS from Korean ALS cohorts.
Methods
We retrospectively investigated the clinical characteristics of JALS patients, who met the revised El Escorial-Airlie House criteria, in the Korean motor neuron disease cohort om January 2002 to November 2018. To evaluate the genetic background ofin JALS, we screened the SOD1 mutation in all JALS patients using PCR.
Results
Among the seven JALS patients, the mean age was 22.1 years (± 2.19 years) and 4 patients were male. Most patients were diagnosed within less than 12 months, but in one patient, it took 96 months to make the initial diagnosis. On assessing the cognitive function, none of the patients had dementia. The progression rate of JALS during follow-up was usually low (median [IQR], 0.31 [0.11-0.52]), except in patients with SOD1 mutation (3.40) and CLEC4C mutation (1.12). One patient revealed a family history of ALS with SOD1 mutation, but we also detected the SOD1 mutation among sporadic JALS patients.
Conclusions
Although JALS patients with genetic mutations (SOD1-p.Asn87Ser and CLEC4C-p.Lys210*) showed faster progression than other JALS patients, one patient with SOD1 mutation (p.Gly17Ala) showed slow progression. Familial ALS was rare; however, it might be caused by low or incomplete penetrance of the genes or by small number of JALS patients. To investigate the other genetic causes of JALS without the SOD1 mutation, a further study including detailed genetic analysis is needed.

Background
s: Amyotrophic lateral sclerosis(ALS) is the neurodegenerative disease characterized by the progressive motor neurons degeneration with phenotypic heterogeneity, including age at onset. Juvenile ALS (JALS) refers to ALS patients who occur before 25 years and typically had slow progression. This study aimed to identify the characteristics of juvenile ALS from Korean ALS cohorts.
Methods
We retrospectively investigated clinical characteristics of JALS patients, who met revised El Escorial-Airlie House criteria, in the Korean motor neuron disease cohort from January 2002 to November 2018. To evaluate genetic background in JALS, we screened SOD1 mutation in all JALS patients using PCR.
Results
Among 7 JALS patients, mean age was 22.1 years(± 2.19 years) and 4 patients were male. Most patients spent lesser than 12 months to diagnose, but one patient took 96 months for initial diagnosis. Assessing cognitive function, there was no patient with dementia. Progression rate of JALS during follow-up were usually slow (median[IQR], 0.31[0.11-0.52]) except patient with SOD1 mutation(3.40) and CLEC4C mutation(1.12). One patient revealed a family history of ALS with SOD1 mutation but we also detected SOD1 mutation among sporadic JALS patients.
Conclusion
Although JALS patients with genetic mutations(SOD1-p.Asn87Ser, CLEC4C-p.Lys210*) showed faster progression than other JALS, 1 patient with SOD1 mutation (p.Gly17Ala) showed slow progression. Familial ALS was rare, however it might be caused by low or incomplete penetrance of the genes or by small numbers of JALS patients. To investigate the other genetic causes of JALS without SOD1 mutation, a further study including detailed genetic analysis will be needed.

Guillain-Barre syndrome (GBS) is acute inflammatory demyelinating polyradiculoneuropathy, which is often related to post-infectious etiology. However, GBS has also been reported to be caused by non-infectious factors such as trauma. This report describes a rare case of post-traumatic GBS with dramatic response to immunoglobulin therapy. And here, we also discussed about the importance of differential diagnosis with critical illness polyneuropathy.

Citations

• MultiSpace Deep Fascial Infection in the Head and Neck Patient Complicated with Guillain-Barre Syndrome: Case Report with a Literature Review
  Fengxia Fan, Hongli Ni, Wanjie Luo, Qingchuan Yi
  Ear, Nose & Throat Journal.2025;[Epub]     CrossRef

Background
central core disease is one of the non-progressive benign congenital myopathies characterized by the presence of cores in muscle fibers, which was originally described by Shy and Magee (1956). We describe clinical charcteristics of central core disease in a Korean family manifested by autosomal dominant pattern through three generations.
Methods
Clinical, serologic, and electrophysiologic profiles were evaluated in eleven members among 22 family members through three generations.
Results
Six family members were symptomatic and five were non-symptomatic. Instead of proximal muscle weakness, musculoskeletal manifestations including non-specific joint pain and stiff sense were the most frequent symptoms. Muscle biopsy performed in two symptomatic patients revealed that type Ifiber showed central halo, which is charactreristics of central core disease. No remarkable findings were present in serologic study including CPK level and electromyographic findings suggesting myopathic pattern were only present in two patients among 11 symptomatic group.
Conclusions
In evaluating non-specific musculoskeletal complaints from the familial members showing genetic trait, central core disease should be considered to one of the possible diagnosis.

Background
Meralgia paresthesia (MP) is characterized by sensory impairment in the anterolateral aspect of the thigh and usually caused by a lateral femoral cutaneous nerve (LFCN) lesion. It is well known that several physiologic factors including age, obesity, and sex can affect nerve conduction. This study aimed to determine whether body mass index (BMI) and age can influence on the conduction velocity and action potential amplitude of the LFCN.
Methods: Fifty six individuals without any previous neuromuscular disease participated in this study. LFCN was studied orthodromically,distally from the anterior superior iliac spine. The values, such as sensory nerve action potential (SNAP) amplitude and sensory nerve conduction velocity (NCV) were obtained. SNAP of the LFCN were formed on both sides in forty three individuals.
Results: No difference of demographic factors was observed between two groups divided according to the presence of SNAP formation. BMI had a significant relationship with SNAP amplitude and NCV of the LFCN. Moreover, Multiple regression analyses of nerve conduction values showed the significant correlation of body mass index and age with nerve conduction velocity.
Conclusions: We may suggest that nerve conduction of the LFCN can be affected by age and BMI. Further study to obtain normal nerve conduction data and compare these data with those of meralgia paresthetica patients should be continued.

Background
s : Carpal tunnel syndrome(CTS) is a common condition that is usually diagnosed by electrophysiologic studies. However, CTS provide limited information to determine the causes of CTS and to choose the treatment method. We evaluated diagnostic sensitivity of MR imaging and treatment decisions by MR imaging in electrodiagnosed CTS. Methods : 14 patients (26 wrists) with electrodiagnosed CTS were studied using MR imaging. In 26 wrists for which axial T1 & T2 weighted images were obtained at 1.5T with a decided wrist coil. Previously described MR imaging of CTS such as increased median nerve signal, flattening of median nerve, reticular bowing, tenosynovitis and space occupying lesions were retrospectively evaluated. Degree of improvement was evaluated by global symptom score(GSS). The GSS rated symptoms from 0 (no symptoms) to 10 (severe0 in each of five categories; pain, numbness, paresthesia, weakness/clumsiness, and nocturnal awaking. Subjects' GSS was recorded at baseline, 2 weeks, 1 month,6 months after treatment. We decided to medical treatment that showed mainly inflammatory sign such as increased median nerve signal, tenosinvitis and to surgical treatment such as space occupying lesion, high canal pressure sign. Results : MR imaging showed that increased median nerve signal were in 29 wrists(77%), flattening of median nerve were in 6 wrists (23%), reticular bowing were in 3 wrists (12%), tenosyovitis were in 8 wrists (32%), decreased canal size in 2 wrists (7.6%), space occupying lesion were in 1 wrists (4%). A good outcome was revealed in 21 wrists by medical treatment that showed mainly increased median nerve signal, tenosynovitis. The mean GSS were 27.7 at baseline 11.2 at 2 weeks, 11.0 at 6 month in medical treatment group. Another 5 wrists had surgical treatment shown by ganglion and high canal pressure sign such as median nerve flattening, reticular bowing, decreased canal size : 3 wrists had good prognosis, but 2 wrists (one patient) had no significant improvement due to small carpal tunnel size. Conclusions : Our results are in agreement with most previously described MR imaging signs of CTS. MR imaging plays an important role in several cases and especially in the assessment of failure of surgical treatment. Knowledge of MR findings may permit more rational choice of treatment.

Progressive systemic sclerosis (PSS) is a multi-systemic disorder characterized by abundant fibrosis of the skin, blood vessels, and visceral organs. But it rarely affects the peripheral nervous system. We report a 36-year-old man of painful trigeminal neuropathy as a complication of PSS. He was referred from Rheumatology for the evaluation of abruptly developed bilateral facial pain. He had facial hyperesthesia and paresthesia on neurologic examinations. In the blink reflex, ipsilateral and contralateral R1 and R2 responses were not detected during bilateral supraorbital stimulation. But normal latency and CMAP amplitude of facial NCV were found. Under the impression of trigeminal neuropathy caused by PSS, steroid therapy was tried, and his clinical symptoms and electrophysiologic findings were improved. PSS could be the cause of the painful trigeminal neuropathy.

Cognitive and behavioral impairment in amyotrophic lateral sclerosis (ALS) is now well recognized that there is clinical, pathological and genetic overlap between ALS and frontotemporal dementia (FTD). Although the cognitive and behavioral status of most patients is not yet fully recognized, roughly up to half of patients with ALS develop cognitive and behavioral impairments and a smaller subgroup of ALS patients, who impaired more severely in cognitive function and behavior, meet the criteria for the FTD (ALS-FTD). Deficits are characterized by executive impairments, extending to changes in language and social cognition, then implying a clinical spectrum linking ALS and FTD. Understanding of cognitive and behavioral impairment in ALS will improve clinical management for patients and their carers and provide valuable clues to encompass the heterogeneity of cognitive and behavioral impairments in ALS and other neurodegenerative diseases.