Asymmetric Atrophy Research Articles

Atypical Parkinsonian Syndromes: Structural, Functional, and Molecular Imaging Features.

Atypical parkinsonian syndromes, also known as Parkinson-plus syndromes, are a heterogeneous group of movement disorders, including dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP), multisystem atrophy (MSA), and corticobasal degeneration (CBD). This review highlights the characteristic structural, functional, and molecular imaging features of these complex disorders. DLB typically demonstrates parieto-occipital hypometabolism with involvement of the cuneus on FDG-PET, whereas dopaminergic imaging, such as [123I]-FP-CIT SPECT (DaTscan) or fluorodopa (FDOPA)-PET, can be utilized as an adjunct for diagnosis. PSP typically shows midbrain atrophy on structural imaging, whereas FDG-PET may be useful to depict frontal lobe hypometabolism and tau-PET confirms underlying tauopathy. MSA typically demonstrates putaminal or cerebellar atrophy, whereas FDG-PET highlights characteristic nigrostriatal or olivopontocerebellar hypometabolism, respectively. Finally, CBD typically shows asymmetric atrophy in the superior parietal lobules and corpus callosum, whereas FDG and tau-PET demonstrate asymmetric hemispheric and subcortical involvement contralateral to the side of clinical deficits. Additional advanced neuroimaging modalities and techniques described may assist in the diagnostic work-up or are promising areas of emerging research.

Oligonucleotide Therapies for Facioscapulohumeral Muscular Dystrophy: Current Preclinical Landscape.

Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy, characterized by progressive and asymmetric muscle atrophy, primarily affecting muscles of the face, shoulder girdle, and upper arms before affecting muscles of the lower extremities with age and greater disease severity. FSHD is a disabling condition, and patients may also present with various extramuscular symptoms. FSHD is caused by the aberrant expression of double homeobox 4 (DUX4) in skeletal muscle, arising from compromised epigenetic repression of the D4Z4 array. DUX4 encodes the DUX4 protein, a transcription factor that activates myotoxic gene programs to produce the FSHD pathology. Therefore, sequence-specific oligonucleotides aimed at reducing DUX4 levels in patients is a compelling therapeutic approach, and one that has received considerable research interest over the last decade. This review aims to describe the current preclinical landscape of oligonucleotide therapies for FSHD. This includes outlining the mechanism of action of each therapy and summarizing the preclinical results obtained regarding their efficacy in cellular and/or murine disease models. The scope of this review is limited to oligonucleotide-based therapies that inhibit the DUX4 gene, mRNA, or protein in a way that does not involve gene editing.

Multifocal Motor Neuropathy

Multifocal motor neuropathy (MMN), an acquired chronic progressive immune-mediated motor neuropathy, is characterized by asymmetrical distal upper limb muscle weakness and muscle atrophy without sensory impairment. Differentiation from amyotrophic lateral sclerosis is usually challenging, and electrophysiological studies show multifocal conduction blocks. Immunoglobulin (Ig)M GM1 antibodies are detected in approximately 50% of patients. In contrast to chronic inflammatory demyelinating polyneuropathy, corticosteroids are ineffective for management of MMN, and IVIg is the sole established treatment.

Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation

We present an in-depth clinical and neuroimaging analysis of a family carrying the MAPT K298E mutation associated with frontotemporal dementia (FTD). Initial identification of this mutation in a single clinical case led to a comprehensive investigation involving four affected siblings allowing to elucidate the mutation's phenotypic expression.A 60-year-old male presented with significant behavioral changes and progressed rapidly, exhibiting speech difficulties and cognitive decline. Neuroimaging via FDG-PET revealed asymmetrical frontotemporal hypometabolism. Three siblings subsequently showed varied but consistent clinical manifestations, including abnormal behavior, speech impairments, memory deficits, and motor symptoms correlating with asymmetric frontotemporal atrophy observed in MRI scans.Based on the genotype–phenotype correlation, we propose that the p.K298E mutation results in early-onset behavioral variant FTD, accompanied by a various constellation of speech and motor impairment.This detailed characterization expands the understanding of the p.K298E mutation's clinical and neuroimaging features, underlining its role in the pathogenesis of FTD. Further research is crucial to comprehensively delineate the clinical and epidemiological implications of the MAPT p.K298E mutation.

Comparative biomechanics of all-on-4 and vertical implant placement in asymmetrical mandibular: a finite element study

BackgroundClinical scenarios frequently present challenges when patients exhibit asymmetrical mandibular atrophy. The dilemma arises: should we adhere to the conventional All-on-4 technique, or should we contemplate placing vertically oriented implants on the side with sufficient bone mass? This study aims to employ three-dimensional finite element analysis to simulate and explore the biomechanical advantages of each approach.MethodsA finite element model, derived from computed tomography (CT) data, was utilized to simulate the nonhomogeneous features of the mandible. Three configurations—All-on-4, All-on-5-v and All-on-5-o were studied. Vertical and oblique forces of 200 N were applied unilaterally, and vertical force of 100 N was applied anteriorly to simulate different masticatory mechanisms. The maximum von Mises stresses on the implant and framework were recorded, as well as the maximum equivalent strain in the peri-implant bone.ResultsThe maximum stress values for all designs were located at the neck of the distal implant, and the maximum strains in the bone tissue were located around the distal implant. The All-on-5-o and All-on-5-v models exhibited reduced stresses and strains compared to All-on-4, highlighting the potential benefits of the additional implant. There were no considerable differences in stresses and strains between the All-on-5-o and All-on-5-v groups.ConclusionsWith the presence of adequate bone volume on one side and severe atrophy of the contralateral bone, while the “All-on-4 concept” is a viable approach, vertical implant placement optimizes the transfer of forces between components and tissues.

Asymmetrical atrophy of the paraspinal muscles in patients undergoing unilateral lumbar medial branch radiofrequency neurotomy.

Lumbar medial branch radiofrequency neurotomy (RFN), a common treatment for chronic low back pain due to facet joint osteoarthritis (FJOA), may amplify paraspinal muscle atrophy due to denervation. This study aimed to investigate the asymmetry of paraspinal muscle morphology change in patients undergoing unilateral lumbar medial branch RFN. Data from patients who underwent RFN between March 2016 and October 2021 were retrospectively analyzed. Lumbar foramina stenosis (LFS), FJOA, and fatty infiltration (FI) functional cross-sectional area (fCSA) of the paraspinal muscles were assessed on preinterventional and minimum 2-year postinterventional MRI. Wilcoxon signed-rank tests compared measurements between sides. A total of 51 levels of 24 patients were included in the analysis, with 102 sides compared. Baseline MRI measurements did not differ significantly between the RFN side and the contralateral side. The RFN side had a higher increase in multifidus FI (+4.2% [0.3-7.8] vs +2.0% [-2.2 to 6.2], P = 0.005) and a higher decrease in multifidus fCSA (-60.9 mm 2 [-116.0 to 10.8] vs -19.6 mm 2 [-80.3 to 44.8], P = 0.003) compared with the contralateral side. The change in erector spinae FI and fCSA did not differ between sides. The RFN side had a higher increase in multifidus muscle atrophy compared with the contralateral side. The absence of significant preinterventional degenerative asymmetry and the specificity of the effect to the multifidus muscle suggest a link to RFN. These findings highlight the importance of considering the long-term effects of lumbar medial branch RFN on paraspinal muscle health.

Longitudinal volumetric changes in amygdala subregions in frontotemporal dementia.

Amygdala atrophy has been found in frontotemporal dementia (FTD), yet the specific changes of its subregions across different FTD phenotypes remain unclear. The aim of this study was to investigate the volumetric alterations of the amygdala subregions in FTD phenotypes and how they evolve with disease progression. Patients clinically diagnosed with behavioral variant FTD (bvFTD) (n = 20), semantic dementia (SD) (n = 20), primary nonfluent aphasia (PNFA) (n = 20), Alzheimer's disease (AD) (n = 20), and 20 matched healthy controls underwent whole brain structural MRI. The patient groups were followed up annually for up to 3.5years. Amygdala nuclei were segmented using FreeSurfer, corrected by total intracranial volumes, and grouped into the basolateral, superficial, and centromedial subregions. Linear mixed effects models were applied to identify changes in amygdala subregional volumes over time. At baseline, bvFTD, SD, and AD displayed global amygdala volume reduction, whereas amygdala volume appeared to be preserved in PNFA. Asymmetrical amygdala atrophy (left > right) was most pronounced in SD. Longitudinally, SD and PNFA showed greater rates of annual decline in the right basolateral and superficial subregions compared to bvFTD and AD. The findings provide comprehensive insights into the differential impact of FTD pathology on amygdala subregions, revealing distinct atrophy patterns that evolve over disease progression. The characterization of amygdala subregional involvement in FTD and their potential role as biomarkers carry substantial clinical implications.

The enigma of depression in corticobasal degeneration, a frequent but poorly understood co-morbidity.

Depression is one of the most frequent neuropsychiatric symptoms in corticobasal degeneration (CBD), a rare, sporadic, and late-onset progressive neurodegenerative disorder of unknown etiology. It is clinically characterized by a levodopa-poorly responsible akinetic-rigid syndrome, apraxia, limb dystonia, cognitive, mood, behavioral, and language disorders. This 4-repeat (4R) tauopathy is morphologically featured by asymmetric frontoparietal atrophy, neuronal loss, and gliosis in cortex and subcortex including substantia nigra, ballooned/achromatic neurons with filamentous 4R tau aggregates in cortex and striatum, widespread thread-like structures, pathognomonic "astroglial plaques", "tufted astrocytes", and numerous "coiled bodies" (in astrocytes and oligodendroglia) in cerebral white matter. CBD is non-specific, as pathologically proven cases include several clinical phenotypes. Pubmed and Google Scholar were systematically analyzed until October 2023, with focus on the prevalence, clinical manifestation, neuroimaging data, and treatment options of depression in CBD. Its prevalence is about 30-40% which is more frequent than in most other atypical parkinsonian syndromes. Depression usually does not correlate with motor and other clinical parameters, suggesting different pathophysiological mechanisms. Asymmetric atrophy and hypometabolism of frontoparietal cortical areas are associated with disruption of fronto-subcortical circuits, nigrostriatal dopaminergic, and cholinergic deficiency. Since no specific neuroimaging, neuropathological, or biomarker studies of depression in CBD are available, its pathobiological mechanisms and pathogenesis are poorly understood. Antidepressive therapy may be useful, but is often poorly tolerated. Depression in CBD, like in other parkinsonian syndromes, may be related to multi-regional patterns of cerebral disturbances and complex pathogenic mechanisms that deserve further elucidation as a basis for early diagnosis and adequate treatment to improve the quality of life in this fatal disease.

Clinical and genetic analysis of a patient with Desminopathy manifesting initially with myalgia after lower limb activity

To explore the clinical characteristics and genetic variant of a patient with desminopathy manifesting with atypical symptoms. A patient who was admitted to the Department of Neurology of Jing'an District Central Hospital on February 24, 2021 was selected as the study subject. Clinical data, laboratory tests, muscle pathology, muscle magnetic resonance imaging (MRI) and genetic testing of the patient were retrospectively analyzed. The patient had developed myalgia after lower limb activity, and gradually developed asymmetrical muscle weakness and atrophy of the lower limbs. Cardiac examination revealed atrioventricular block and decreased left ventricular diastolic function. Muscle MRI showed that semitendinosus, sartorius, gracilis, fibula, gastronemius and supinator muscles were selectively involved at the early stage. Muscle biopsy confirmed pathological changes of desmin positive myofibrils. Genetic testing revealed that the patient has harbored a c.1024A>G (p.n342d) missense variant in exon 6 of the DES gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic (PS4_moderate+PM2_supporting+PP3_moderate+PP1). Desmin disease has a great clinical heterogeneity. Postexercise myalgia of lower limbs is a rare clinical phenotype. For patients harboring the c.1024A>G (p.n342d) variant of the DES gene, in addition to semitendinosus and fibula, Cardiac involvement is relatively insidious and easy to be ignored in clinic. Timely muscle MRI, muscle biopsy and gene detection will help the early diagnosis of the disease.

Clinical Manifestations.

Mutations in the progranulin gene on chromosome 17(GRN) is considered as one of most common causes of frontotemporal lobe degeneration. However, the phenotype and genotype correlation of GRN varies among different cohorts and ethnicities. In Chinese people, the genotype of GRN has not been fully elucidated. 1945 patients with dementia at Peking Union Medical College Hospital underwent next-generation sequencing (NGS) analysis. GRN variations classified as likely pathogenic and of uncertain significance were identified. Demographic information, clinical presentations, and neuroimaging were collected. The clinical, neuropsychological and neuroimaging characters were investigated. Three patients with four likely pathogenic mutation: p.P50fs & p.W49_P50delinsX, p.P439fs, p.R110X, and thirteen patients with uncertain significance mutations were enrolled. Cognitive dysfunction, behavior, and personality changes as well as aphasia were the most common presentations. Asymmetrical atrophy of the frontal lobe and temporal lobe appeared in 64% GRN mutation carriers. Parietal lobe dysfunction or parietal lobe atrophy existed in all patients. White matter lesions existed in 79% patients. The majority of clinical phenotype was frontotemporal lobe degeneration, though cerebral vascular lesions were obvious in some of them especially among old onset patients. The proportion of ApoE e4 carriers were higher in old onset patients than those in young onset ones. GRN mutation is rare in Chinese dementia patients. The phenotype and genotype correlation is specific and overlaps.

56 Stereological Densities of Neuronal Tau Inclusions in Corticobasal Degeneration are Anatomically Distinct in PPA vs bvFTD

Objective:Primary progressive aphasia (PPA) is a dementia syndrome characterized early in its course by gradual dissolution of language and is associated with asymmetric atrophy in the language-dominant hemisphere (usually left). In contrast, behavioral variant frontotemporal dementia (bvFTD) is a dementia syndrome characterized by a progressive early decline in personality and comportment and is associated with relatively symmetric or rightward predominant bifrontal atrophy. This study analyzed the regional and hemispheric distributions of neuronal tau inclusions of the corticobasal degeneration variant of FTLD-tau pathology (FTLD-CBD) in individuals with PPA or bvFTD. The goal was to establish clinicopathologic concordance between FTLD-CBD and behavioral/comportmental vs aphasic dementia syndromes.Participants and Methods:Seven participants were clinically diagnosed with PPA and 6 were diagnosed with bvFTD. All had FTLD-CBD as the principal neuropathologic diagnosis at postmortem study. Sections from the following cortical regions were stained immunohistochemically with AT-8 to visualize neuronal tau inclusions: bilateral middle frontal gyrus (MFG), inferior parietal lobule (IPL), superior temporal gyrus (STG); and unilateral occipital cortex (OCC). Bilateral anterior temporal lobes (ATL) were analyzed in PPA cases only. Unbiased stereological analysis was performed to compare regional and hemispheric distributions between and within PPA vs. bvFTD groups.Results:Overall neocortical (MFG+STG+IPL) tau densities were significantly greater in the PPA group compared to the bvFTD group (p<0.05). Within the bvFTD group, the highest densities of tau inclusions were observed in the right MFG (mean=6,871.17; SD=3,220). In the PPA group, highest densities were observed in the left ATL (mean=9,901.81; SD=6,871). There was leftward hemispheric asymmetry of tau inclusions in IPL, STG and ATL which trended towards significance in the latter (p=0.083). Cortical distributions were symmetric or rightward predominant within the bvFTD group. Occipital cortex was devoid of inclusions.Conclusions:Preliminary stereological findings of FTLD-CBD tau inclusions suggest that the distributions of pathologic tau are different across two distinct clinical dementia phenotypes. The presence of left-sided neuronal tau inclusions in PPA is concordant with the aphasic phenotype whereas symmetric and frontal-predominant densities in bvFTD are consistent with comportmental dysfunction.

A Case Series of Occult Macular Dystrophy

Purpose. This case series showcases three patients with mild variation in phenotypic presentations of Occult Macular Dystrophy (OCMD), an autosomal-dominant inherited retinal dystrophy (IRD) associated with a retinitis pigmentosa-1-like-1 (RP1L1 ) gene mutation. All cases have confirmed RP1L1 gene mutations and display a range of phenotypic expressions on various imaging modalities and visual acuities. Material and Methods. Three patients of the University Eye Center (UEC) with confirmed RP1L1 gene mutations presented for follow-up or baseline imaging to rule out inherited retinal disease. All patients underwent fundus photography with and without fundus autofluorescence (FAF), optical coherence tomography (OCT), genetic testing, visual fields, and electrodiagnostic testing such as multifocal electroretinogram (mfERG) and/or full-field electroretinogram (ffERG). Results. In two of the three cases, minimal to no funduscopic changes are appreciated on ophthalmoscopy or fundus photography with and without FAF. Effects of OCMD can only be appreciated on OCT imaging, including attenuation or disruption of the photoreceptor integrity line (PIL), and cen- tral depression on visual field testing. One of the three cases displays an unusual presentation with asymmetric central outer retinal atrophy that can be appreciated on fundoscopy as well as other imaging modalities. Conclusion. Although individuals with this IRD typically funduscopically appear normal, there may be a phenotypic spectrum impacting visual potential. Diagnosis of this con- dition is heavily dependent on macular OCT, electrophysio- logical testing, and genetic testing. Keywords Occult Macular Dystrophy, RP1L1, inherited retinal disease, electroretinogram, OCT

Asymmetric Cerebral Peduncle Atrophy: A Simple Diagnostic Clue for Distinguishing Frontotemporal Lobar Degeneration from Alzheimer's Disease.

Due to confusing clinicoradiological features such as amnestic symptoms and hippocampal atrophy in frontotemporal lobar degeneration (FTLD), antemortem differentiation between FTLD and Alzheimer's disease (AD) can be challenging. Although asymmetric atrophy of the cerebral peduncle is regarded as a representative imaging finding in some disorders of the FTLD spectrum, the utility of this finding has not been sufficiently evaluated for differentiating between FTLD and AD. This study aimed to explore the diagnostic performance of asymmetric cerebral peduncle atrophy on axial magnetic resonance imaging as a simple radiological discriminator between FTLD and AD. Seventeen patients with pathologically confirmed FTLD, including six with progressive supranuclear palsy, three with corticobasal degeneration, eight with TAR DNA-binding protein 43 (FTLD-TDP), and 11 with pathologically confirmed AD, were investigated. Quantitative indices representing the difference between the volumes of the bilateral cerebral peduncles (i.e., cerebral peduncular asymmetry index [CPAI]), the voxel-based specific regional analysis system for Alzheimer's disease (VSRAD) Z-score representing the degree of hippocampal atrophy, and semiquantitative visual analysis to evaluate the asymmetry of the cerebral peduncle (visual assessment of cerebral peduncular asymmetry: VACPA) were compared between the two groups. Contrary to the VSRAD Z-score, the CPAI and VACPA scores demonstrated higher diagnostic performance in differentiating patients with FTLD from those with AD (areas under the receiver operating characteristic curve of 0.88, 082, and 0.60, respectively). Quantitative and visual analytical techniques can differentiate between FTLD and AD. These simple methods may be useful in daily clinical practice.

Genetic and Neuroimaging Analysis of SIGMAR1 for Frontotemporal Dementia.

Recently, Sigma nonopioid intracellular receptor 1 (SIGMAR1) variants have been shown harboring C9orf72 pathogenic repeat expansions in some frontotemporal dementia (FTD) cases. However, no SIGMAR1 genotype analysis has been reported in a cohort absent of C9orf72 pathogenic repeat expansions to date. The present study investigated the contribution of SIGMAR1 independent of C9orf72 gene status to FTD spectrum syndromes. We directly sequencing the entire coding region and a minimum of 50 bp from each of the flanking introns of SIGMAR1 gene in 82 sporadic FTD patients (female: male = 42 : 40) and 417 controls. For the patient carrying SIGMAR1 variant, a follow-up 3T MR imaging was performed in the study. Gene sequencing of SIGMAR1 revealed a rare 3'UTR nucleotide variation rs192856872 in a male patient with semantic dementia independent of C9orf72 gene status. The MR imaging showed asymmetrical atrophy in the anterior temporal lobes and the degeneration extends caudally into the posterior temporal lobes as the disease progresses. ESEFinder analysis showed new SRSF1 and SRSF1-IgM-BRCA1 binding sites with significant scores, which is predicted to affect normal splicing. We found a novel SIGMAR1 variant independent of C9orf72 gene status associated with semantic dementia phenotype.

Pathomechanisms of cognitive and behavioral impairment in corticobasal degeneration.

Corticobasal degeneration (CBD) is a rare, sporadic, late-onset progressive neurodegenerative disorder of unknown etiology, clinically characterized by an akinetic-rigid syndrome, behavior and personality disorders, language problems (aphasias), apraxia, executive and cognitive abnormalities and limb dystonia. The syndrome is not specific, as clinical features of pathologically proven CBD include several phenotypes. This 4-repeat (4R) tauopathy is morphologically featured by often asymmetric frontoparietal atrophy, ballooned/achromatic neurons containing filamentous 4R-tau aggregates in cortex and striatum, thread-like processes that are more widespread than in progressive supranuclear palsy (PSP), pathognomonic "astroglial plaques", and numerous inclusions in both astrocytes and oligodendroglia ("coiled bodies") in the white matter. Cognitive deficits in CBD are frequent initial presentations before onset of motor symptoms, depending on the phenotypic variant. They predominantly include executive and visuospatial dysfunction, sleep disorders and language deficits with usually preserved memory domains. Neuroimaging studies showed heterogenous locations of brain atrophy, particularly contralateral to the dominant symptoms, with disruption of striatal connections to prefrontal cortex and basal ganglia circuitry. Asymmetric hypometabolism, mainly involving frontal and parietal regions, is associated with brain cholinergic deficits, and dopaminergic nigrostriatal degeneration. Widespread alteration of cortical and subcortical structures causing heterogenous changes in various brain functional networks support the concept that CBD, similar to PSP, is a brain network disruption disorder. Putative pathogenic factors are hyperphosphorylated tau-pathology, neuroinflammation and oxidative injury, but the basic mechanisms of cognitive impairment in CBD, as in other degenerative movement disorders, are complex and deserve further elucidation as a basis for early diagnosis and adequate treatment of this fatal disorder.

Cranial Nerve Palsies in the Setting of Arachnoid Cysts: A Case Series and Literature Review.

Arachnoid cysts (ACs) are benign lesions typically believed to not cause neurologic defects in the adult population and are most often found incidentally on imaging. We describe 2 patients with ACs potentially leading to isolated cranial nerve (CN) dysfunction. We describe 2 patients, 1 with a fourth nerve palsy and the other with a sixth nerve palsy found to have ACs on MRI brain imaging in locations that potentially caused a compressive CN palsy. We review previous literature of ACs presenting with CN III, IV, or VI palsy. Patient 1 was a 62-year-old man who presented with a 22-year history of diplopia with strabismus examination consistent with a congenital CN IV palsy. Despite multiple surgeries, his CN IV palsy insidiously worsened. An AC in the posterior fossa with mass effect on the quadrigeminal plate and asymmetric atrophy of the right superior oblique was identified on imaging. Patient 2 was an 80-year-old man who presented with an 18-year history of diplopia and was found to have a left esotropia and abduction deficit consistent with complete CN VI palsy. An AC in the left cavernous sinus was identified on imaging. He underwent strabismus surgery with satisfactory resolution of diplopia. We identified a total of 18 previously published cases: 8 reports of CN III palsy, 4 reports of CN IV palsy, and 6 reports of CN VI palsy. Patient ages ranged from 1 to 67 with a median of 34.5. In 16/18 (89%) cases, the diagnosis of ACs was made within 1 year of symptom onset. Surgical removal of the AC was successful in resolving diplopia in 7/12 (58%) cases. In no case was strabismus surgery performed as primary treatment. Although ACs are typically congenital asymptomatic lesions, we present a case series of 2 patients with ACs in anatomic locations that potentially caused chronic, progressive, isolated CN palsies leading to strabismus. Our literature review revealed that most published cases detailing this clinical scenario resulted in neurosurgical fenestration of ACs with mixed results. Our cases represent 2 patients with AC-associated CN palsy treated with strabismus surgery.

Hirayama disease: A case of an Asian male with asymmetric bilateral amyotrophy of upper limbs

Hirayama disease (HD), also known as monomelic atrophy, is a rare clinical condition with preference for Asian males [1]. It usually involves the unilateral upper extremity. Here, we present a case of asymmetric bilateral muscular atrophy and explore the cause.

Probable Kennedy Disease Mimicking Hirayama Disease: A Case Report

Spinal and bulbar muscular atrophy (Kennedy disease) is an X-linked, adult-onset motor neuron disease characterized by slow, progressive weakness of the bulbar and extremity muscles with CAG triplet repeat expansion in the androgen receptor gene. Hirayama disease (HD) is characterized by the juvenile onset of asymmetric weakness and amyotrophy of the hand and is most common in males in Asia. We report a patient with atypical Kennedy disease presenting with asymmetric hand weakness and atrophy typical of HD.

Endothelial dysfunction of the cornea after exposure to sprayed venom from hornets

Purpose Ocular injuries due to Hymenoptera venom are uncommon and most injuries occur on the ocular surface. We reported two rare cases of corneal endothelial damage caused by hornet venom that was sprayed, not injected, through stinging in the eye. Observations Case 1: A 57-year-old male patient was injured when a hornet sprayed venom into his left eye. He was referred to our hospital because the edoema and epithelial erosion of the cornea persisted. The patient presented with bullous keratopathy, asymmetrical iris atrophy, irreversible mydriasis, and glaucoma. His cataract progressed, and his best-corrected visual acuity was 0.03. Cataract surgery was performed after anti-inflammatory treatment with steroids, and Descemet-stripping automated endothelial keratoplasty was performed 6 months later. The patient recovered well postoperatively: his best-corrected visual acuity improved to 1.0 and he continued his glaucoma treatment. Case 2: A 75-year-old male patient had damage to his corneal epithelium, severe conjunctivitis, and conjunctival edoema when sprayed hornet venom entered his left eye. At initial presentation, the corneal endothelial cell density had decreased to 1042 cells/mm2. The conjunctival sac was washed, and steroid and topical antibacterial instillations were administered. His best-corrected visual acuity improved from 0.07 at the initial visit to 0.5. However, the corneal opacification and glaucoma persisted, and 3 months later the corneal endothelial cell density decreased to 846 cells/mm2. Conclusions and importance Corneal injuries caused by sprayed hornet venom are rare; however, they can cause intense anterior chamber inflammation and severe, irreversible corneal endothelial damage. In such cases, prompt initial treatment, the administration of adequate anti-inflammatory medication, and careful evaluation of the corneal endothelium are required.

An exceptional presentation of Charcot–Marie‐tooth 1C disease: Case report of a diagnostic dilemma

AbstractCharcot–Marie‐Tooth (CMT) disease is the commonest form of hereditary sensorimotor neuropathy and presents with a vast plethora of phenotypes and genetic mutations. CMT1C is a rarer variant presenting with lower limb predominant sensorimotor involvement, associated with LITAF/SIMPLE gene mutation. We describe a case of an 18‐year‐old male with progressive asymmetrical upper limb weakness and atrophy with an extensive epidural arachnoid cyst in cervicothoracic spine. Nerve conduction study and genetic analysis aided the diagnosis of CMIT1C. This is the first case reported with the coexistence of the two pathologies that may turn out to be a phenotype of the same disease spectrum in future research.