Clinical Relevance of Enlarged Perivascular Spaces in Neurodegenerative Disease

Background@#Enlarged perivascular space (ePVS) is recently reported to be associated with cerebral small vessel disease (SVD) and Alzheimer’s disease (AD). The topographical location of ePVS may relate to the underlying pathology; basal ganglia (BG)-ePVS has been associated with cerebral vascular diseases and centrum semi-ovale (CSO)-ePVS associated with cerebral amyloid angiopathy (CAA). However, the effects of ePVS on various neurological conditions remain still controversial. To investigate the clinical relevance of ePVS in neurodegenerative diseases, we tested relationships between ePVS and cognition, markers of SVD, vascular risk factors, or amyloid pathology. @*Methods@#We retrospectively reviewed 292 patients (133 AD dementia, 106 mild cognitive impairment, 39 other neurodegenerative diseases, 14 subjective cognitive decline) who underwent both amyloid positron emission tomography and brain magnetic resonance imaging. Vascular risk factors and cognitive tests results were collected. The ePVS in the BG and CSO, SVD markers and the volume of white matter hyperintensities were measured. @*Results@#There were no significant differences in the severity and distribution of ePVS among clinical syndromes. Both BG- and CSO-ePVS were not related to cognitive function. Patients with lacunes were more likely to have high-degree BG-ePVS. High degree CSO-ePVS had an odds ratio (OR) for amyloid positive of 2.351, while BG-ePVS was a negative predictor for amyloid pathology (OR, 0.336). @*Conclusions@#Our findings support that ePVS has different underlying pathologies according to the cerebral topography. BG-ePVS would be attributed to hypertensive angiopathy considering the relation with SVD markers, whereas and CSO-ePVS would be attributed to CAA considering the association with amyloid pathology.

An Autopsy Confirmed Case of Amyotrophic Lateral Sclerosis with TDP Pathology

The phosphorylated 43-kDa transactive response DNA-binding protein (TDP-43) was identified as a major disease protein in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. We present a case with progressive muscle weakness who was diagnosed with sporadic ALS. On postmortem examination, TDP-43 immunoreactive neuronal cytoplasmic inclusions were noted in motor cortex, hippocampus and anterior horns of spinal cord, which was compatible with ALS-TDP, stage 4. This is the first documented autopsy-confirmed ALS case with ALS-TDP pathology in Korea.

Comparison of Neuropathological Characteristics between Multiple System Atrophy Cerebellar Type and Parkinsonian Type

Background@#Multiple system atrophy (MSA) is a sporadic neurodegenerative disease characterized by various combinations of parkinsonism, cerebellar ataxia, autonomic dysfunction and pyramidal signs. Two clinical subtypes are recognized: MSA with predominant cerebellar ataxia (MSA-C) and MSA with predominant parkinsonism (MSA-P). The aim of this study was to compare pathological features between MSA-C and MSA-P. @*Methods@#Two autopsy confirmed cases with MSA were included from the Pusan National University Hospital Brain Bank. Case 1 had been clinically diagnosed as MSA-C and case 2 as MSA-P. The severity of neuronal loss and gliosis as well as the glial and neuronal cytoplasmic inclusions were semiquantitatively assessed in both striatonigral and olivopontocerebellar regions. Based on the grading system, pathological phenotypes of MSA were classified as striatonigral degeneration (SND) predominant (SND type), olivopontocerebellar degeneration (OPC) predominant (OPC type), or equivalent SND and OPC pathology (SND=OPC type). @*Results@#Both cases showed widespread and abundant α-synuclein positive glial cytoplasmic inclusions in association with neurodegenerative changes in striatonigral or olivopontocerebellar structures, leading to the primary pathological diagnosis of MSA. Primary age-related tauopathy was incidentally found but Lewy bodies were not in both cases. The pathological phenotypes of MSA were MSA-OPC type in case 1 and MSA-SND=OPC type in case 2. @*Conclusions@#Our data suggest that clinical phenotypes of MSA reflect the pathological characteristics.

Effect of Single-Nucleotide Polymorphisms on Decline of Dopamine Transporter Availability in Parkinson's Disease

BACKGROUND AND PURPOSE: We aimed to determine the association between the annual changes in dopamine transporter (DAT) availability as measured by 123I-ioflupane (123I-FP-CIT) single-photon-emission computed tomography and single-nucleotide polymorphisms (SNPs) known to be risk factors in Parkinson's disease (PD). METHODS: In total, 150 PD patients were included from the Parkinson's Progression Markers Initiative database. Specific SNPs that are associated with PD were selected for genotyping. SNPs that were not in Hardy-Weinberg equilibrium or whose minor allele frequency was less than 0.05 were excluded. Twenty-three SNPs met the inclusion criteria for this study. The Kruskal-Wallis test was used to compare annual percentage changes in DAT availability for three subgroups of SNP. RESULTS: None of the 23 SNPs exerted a statistically significant effect (p < 0.0022) on the decline of DAT availability in PD patients. However, we observed trends of association (p < 0.05) between three SNPs of two genes with the annual percentage change in DAT availability: 1) rs199347 on the putamen (p=0.0138), 2) rs356181 on the caudate nucleus (p=0.0105), and 3) rs3910105 on the caudate nucleus (p=0.0374). A post-hoc analysis revealed that DAT availability was reduced the most for 1) the putamen in the CC genotype of rs199347 (vs. CT, p=0.0199; vs. TT, p=0.0164), 2) the caudate nucleus in the TT genotype of rs356181 (vs. CC, p=0.0081), and 3) the caudate nucleus in the CC genotype of rs3910105 (vs. TT, p=0.0317). CONCLUSIONS: Significant trends in the associations between three SNPs and decline of DAT availability in PD patients have been discovered.

Prelacrimal Recess Approach for Maxillary Sinus Inverted Papilloma: Preliminary Study / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES@#Various surgical approaches have been employed for the complete resection of inverted papilloma (IP) of the nose and paranasal sinus. Sacrificing the inferior turbinate (IT) and nasolacrimal duct (NLD) is often unavoidable due to the anatomy of maxillary sinus. However, the prelacrimal recess approach (PLRA) provides a wider entrance to the maxillary sinus without the ablation of NLD and IT. We present seven cases of IP successfully treated by the PLRA.SUBJECTS AND METHOD: We collected data from seven different cases involving patients who underwent resection of IP by means of the PLRA from 2016 to 2017. If the lesion could not be removed first via middle meatal antrostomy (MMA), then PLRA was attempted. The surgical specimens were all confirmed to be IP.@*RESULTS@#Preoperative imaging studies demonstrated that the lesions of IP were located mainly in the maxillary sinus. All of the seven patients had unilateral lesions and all tumors were completely resected via PLRA. The follow-up ranged from 3 to 24 months, during which no recurrence or complications were observed in any of the seven patients.@*CONCLUSION@#PLRA provides an adequate operation field without unfavorable scars. It allows the preservation of sinus structure and function. PLRA is feasible and can be used for the diffuse maxillary sinus IP.

A Case of Transoral Endoscopic Thyroidectomy Combined with Facelift Modified Radical Neck Dissection / 대한이비인후과학회지

We recently experienced a case of transoral endoscopic thyroidectomy combined with a modified radical neck dissection (MRND) using a facelift approach in a patient with keloid-prone skin. A 35-year-old female was diagnosed with a papillary thyroid carcinoma, which was 1.2 cm in diameter and showed level II-III lateral cervical metastases. The patient required total thyroidectomy and MRND; however, she was concerned about the neck incision because she had keloid-prone skin. We first performed a transoral, endoscopic total thyroidectomy combined with bilateral central node dissection via a tri-vestibular approach, and then followed it by MRND (II-V) using a facelift approach with the Da Vinci robotic system. We noted no significant complications, such as vocal cord palsy, hypoparathyroidism, or permanent loss of the lower lip or auricle. This new method of combining transoral and facelift approaches will be useful for patients with small thyroid cancers and lateral neck metastases.

Factors Related to Sleep Time Underestimation in Obstructive Sleep Apnea: Retrospective Study Based on Polysomnographic Data

BACKGROUND: The perception of sleep time in obstructive sleep apnea (OSA) is not well understood, some studies have reported that subjects with OSA have abnormal sleep perception. We hypothesized that the severity of OSA would affect the sleep perception of patients with OSA and investigated the associated factors that affect the sleep perception in OSA. METHODS: Four hundred and sixty eight subjects with OSA were included in present study. Subjects with OSA were divided, depending upon their sleep perception. The first group included individuals who underestimated their time spent sleeping, the second group included those who did not underestimate their sleep time. The underestimation of sleep time is defined as the perceived total sleep time being less than 80% of that measured in polysomnography (PSG). All participants were analyzed their demographics, PSG parameter and questionnaires such as Beck Depression Inventory, Epworth Sleepiness Scale. RESULTS: Of 468 participants, 179 (38.2%) subjects were included in the group that underestimating sleep. Gender (female, odds ratio [OR]=2.01, 95% confidence interval [CI]=1.25–3.22), depression (OR=1.75, 95% CI=1.03–2.97) and proportion of slow wave sleep (OR=0.98, 95% CI=0.96–0.99) were related to the underestimation of sleep. CONCLUSIONS: The underestimation of sleep in OSA is not directly related to OSA severity. Gender, psychiatric disorder, and sleep architecture are associated with the underestimating sleep in OSA.

A Case of Transoral Endoscopic Thyroidectomy Combined with Facelift Modified Radical Neck Dissection / 대한이비인후과학회지

We recently experienced a case of transoral endoscopic thyroidectomy combined with a modified radical neck dissection (MRND) using a facelift approach in a patient with keloid-prone skin. A 35-year-old female was diagnosed with a papillary thyroid carcinoma, which was 1.2 cm in diameter and showed level II-III lateral cervical metastases. The patient required total thyroidectomy and MRND; however, she was concerned about the neck incision because she had keloid-prone skin. We first performed a transoral, endoscopic total thyroidectomy combined with bilateral central node dissection via a tri-vestibular approach, and then followed it by MRND (II-V) using a facelift approach with the Da Vinci robotic system. We noted no significant complications, such as vocal cord palsy, hypoparathyroidism, or permanent loss of the lower lip or auricle. This new method of combining transoral and facelift approaches will be useful for patients with small thyroid cancers and lateral neck metastases.

Prelacrimal Recess Approach for Maxillary Sinus Inverted Papilloma: Preliminary Study / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: Various surgical approaches have been employed for the complete resection of inverted papilloma (IP) of the nose and paranasal sinus. Sacrificing the inferior turbinate (IT) and nasolacrimal duct (NLD) is often unavoidable due to the anatomy of maxillary sinus. However, the prelacrimal recess approach (PLRA) provides a wider entrance to the maxillary sinus without the ablation of NLD and IT. We present seven cases of IP successfully treated by the PLRA. SUBJECTS AND METHOD: We collected data from seven different cases involving patients who underwent resection of IP by means of the PLRA from 2016 to 2017. If the lesion could not be removed first via middle meatal antrostomy (MMA), then PLRA was attempted. The surgical specimens were all confirmed to be IP. RESULTS: Preoperative imaging studies demonstrated that the lesions of IP were located mainly in the maxillary sinus. All of the seven patients had unilateral lesions and all tumors were completely resected via PLRA. The follow-up ranged from 3 to 24 months, during which no recurrence or complications were observed in any of the seven patients. CONCLUSION: PLRA provides an adequate operation field without unfavorable scars. It allows the preservation of sinus structure and function. PLRA is feasible and can be used for the diffuse maxillary sinus IP.

A Case of Hamartoma of the Subglottis / 대한이비인후과학회지

Hamartoma is a developmental anomaly or non-neoplastic malformations composed by an excessive growth of indigenous mature tissue present in wrong proportions and abnormal arrangements. Hamartomas may develop in all areas of the body but it is extremely rare in the larynx. The treatment of hamartomas consists of adequate surgical excision leading to an excellent prognosis. We present an incidentally detected subglottic mass during intubation in a 70-year-old male patient. The mass was excised by transoral laser surgery. Histopathologic examination of the lesion revealed that it consisted of hamartoma.

An Autopsy Confirmed Case of Semantic Variant Primary Progressive Aphasia with Frontotemporal Lobar Degeneration-TDP type C

A 62-year-old man presented with a one-year history of word finding difficulty, impaired single word comprehension and personality changes including aggression, apathy and eating change. Brain MRIs showed severe atrophy in the left anterior temporal lobe. The clinical syndromic diagnosis was semantic variant primary progressive aphasia. He died at age 70 of pneumonia. At autopsy, transactive response DNA-binding protein (TDP) immunoreactive long dystrophic neurites were predominantly found in the cerebral cortices, which were compatible with frontotemporal lobar degeneration-TDP type C pathology.

Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia

No abstract available.

Effect of rs3910105 in the Synuclein Gene on Dopamine Transporter Availability in Healthy Subjects

PURPOSE: The present study investigated associations between dopamine transporter (DAT) availability and α-synuclein levels in cerebrospinal fluid, as well as synuclein gene (SNCA) transcripts, and the effect of single nucleotide polymorphism of SNCA on DAT availability in healthy subjects. MATERIALS AND METHODS: The study population comprised healthy controls who underwent 123I-FP-CIT single-photon emission computed tomography screening. Five SNCA probes were used to target the boundaries of exon 3 and exon 4 (SNCA-E3E4), transcripts with a long 3′UTR region (SNCA-3UTR-1, SNCA-3UTR-2), transcripts that skip exon 5 (SNCA-E4E6), and the rare short transcript isoforms that comprise exons 1–4 (SNCA-007). RESULTS: In total, 123 healthy subjects (male 75, female 48) were included in this study. DAT availability in the caudate nucleus (p=0.0661) and putamen (p=0.0739) tended to differ according to rs3910105 genotype. In post-hoc analysis, DAT availability in the putamen was lower in subjects of TT genotype than those of CC/CT (p=0.0317). DAT availability in the caudate nucleus also showed a trend similar to that in the putamen (p=0.0597). Subjects of CT genotype with rs3910105 showed negative correlations with DAT availability in the putamen with SNCA-E3E4 (p=0.037, rho=−0.277), and SNCA-E4E6 (p=0.042, rho=−0.270), but not those of CC/TT genotypes. CONCLUSION: This is the first study to investigate the association of rs3910105 in SNCA with DAT availability. rs3910105 had an effect on DAT availability, and the correlation between DAT availability and SNCA transcripts were significant in CT genotypes of rs3910105.

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans

OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea. METHODS: We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN). RESULTS: Four subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN. CONCLUSIONS: We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.

Pyogenic Liver Abscess: Changes in Clinical Features over the Last 10 Years / 대한내과학회지

BACKGROUND/AIMS: A pyogenic liver abscess is an acute bacterial infection that can potentially lead to life-threatening sepsis. This study examined the clinical features and changing trends of pyogenic liver abscess over the last 10 years. METHODS: We investigated patient characteristics, laboratory findings, blood and abscess culture results, location and characteristics of the abscess, and treatment modality in the medical records of 146 patients. We divided them into three groups by period: period 1, 23 patients in 2002-2003; period 2, 46 patients in 2007-2008; and period 3, 77 patients in 2012-2013. RESULTS: The mean patient age was 64.3 +/- 15.1 years and 87 of the 146 patients were male (59.6%). Period 2 had a higher prevalence of chronic alcoholics (30.4% vs. 10.4%) and lower prevalence of fever and chills (73.9% vs. 92.2%) compared with period 3. Klebsiella pneumoniae was the most commonly cultured bacteria and the microbiological findings did not differ among the three periods. Pyogenic liver abscesses were more common in the right liver. The lengths of hospital stay and treatment modalities were similar in all three periods. CONCLUSIONS: Although there were slight differences in symptoms among the periods, there were no changes in the liver abscess characteristics, i.e., location, size, and culture results. As there were no changes, the treatment strategy also did not change. We should continue to investigate the clinical features of liver abscess.

An Autopsy Confirmed Case of Behavioral Variant Frontotemporal Dementia with Corticobasal Degeneration Pathology

A 63-year-old man presented with a 1.5-year history of progressive personality changes. Clinical evaluations revealed severe frontal dysfunction and bilateral frontal atrophy/glucose hypometabolism. He was diagnosed as probable behavioral variant frontotemporal dementia. He continued to decline, and died at the age of 66. At autopsy, numerous tau-positive gilial threads and coiled bodies were observed in the white matter. Tau-positive astrocytic plaques and neuronal cytoplasmic inclusions were also seen in cerebral cortices, which were compatible with corticobasal degeneration.

An Autopsy Confirmed Case of Behavioral Variant Frontotemporal Dementia with Corticobasal Degeneration Pathology

A 63-year-old man presented with a 1.5-year history of progressive personality changes. Clinical evaluations revealed severe frontal dysfunction and bilateral frontal atrophy/glucose hypometabolism. He was diagnosed as probable behavioral variant frontotemporal dementia. He continued to decline, and died at the age of 66. At autopsy, numerous tau-positive gilial threads and coiled bodies were observed in the white matter. Tau-positive astrocytic plaques and neuronal cytoplasmic inclusions were also seen in cerebral cortices, which were compatible with corticobasal degeneration.

An Autopsy Case of Frontotemporal Dementia with Motor Neuron Disease

Approximately 15% of patients with frontotemporal dementia (FTD) have co-occurring motor neuron disease (MND). FTD-MND cases have frontotemporal lobar degeneration (FTLD)-transactive response DNA-binding protein (TDP) pathology, which is divided into four subtypes (types A, B, C, and D) based on the morphological appearance, cellular location, and distribution of the abnormal TDP inclusions and dystrophic neurites. We report a patient with FTD-MND whose pathological diagnosis was FTLD-TDP type B. This is the first documented autopsy-confirmed case of FTD-MND in Korea.

An Autopsy Case of Frontotemporal Dementia with Motor Neuron Disease

Approximately 15% of patients with frontotemporal dementia (FTD) have co-occurring motor neuron disease (MND). FTD-MND cases have frontotemporal lobar degeneration (FTLD)-transactive response DNA-binding protein (TDP) pathology, which is divided into four subtypes (types A, B, C, and D) based on the morphological appearance, cellular location, and distribution of the abnormal TDP inclusions and dystrophic neurites. We report a patient with FTD-MND whose pathological diagnosis was FTLD-TDP type B. This is the first documented autopsy-confirmed case of FTD-MND in Korea.

Adult-Onset Moyamoya Disease Manifesting as Vascular Parkinsonism

No abstract available.