Bo-Young Ahn

Inclusion Body Myopathy With Paget Disease of Bone and Frontotemporal Dementia Linked to VCP p.Arg155Cys in a Korean Family

BACKGROUND Missense mutations in the valosin-containing protein (VCP) gene on chromosome 9p13.3-p12 cause inclusion body myopathy with Paget disease of bone and frontotemporal dementia (hereafter referred to as IBMPFD; OMIM 167320). OBJECTIVE To describe detailed clinical, electrophysiological, biochemical, and neuroimaging findings in IBMPFD linked to VCP p.Arg155Cys in a Korean family. DESIGN Case series. Clinical, electrophysiological, biochemical, and neuroimaging findings were obtained by direct evaluation and from previous medical records. SETTING Tertiary referral hospital. PARTICIPANTS Three affected family members in a Korean family. RESULTS The clinical features of myopathy, Paget disease of bone, and semantic dementia (a clinical subtype of frontotemporal dementia) in our patients were similar to those of previously reported cases. However, the brain magnetic resonance imaging features in our patients, including asymmetric anterior and lateral temporal and inferior parietal atrophy with ventricular dilatation on the affected side, differed from those of previously published features in patients with IBMPFD and in patients with typical semantic dementia who show anterior temporal and frontal atrophy. CONCLUSION To our knowledge, this report provides the first documented IBMPFD family in Asia and broadens the phenotypic spectrum of VCP mutation-associated frontotemporal dementia.

Isolated monocular visual loss as an initial manifestation of polycythemia vera

A 25-year-old man developed prolonged loss of vision in the left eye. Examination revealed that visual acuity was 20/20 in the right eye and 10/20 in the left eye, with a left relative afferent pupillary defect. Fundoscopy showed multiple cotton wool spots in the left whole retina with normal optic disc. Fluorescein angiography (FA) revealed markedly delayed arterial, venous and recirculation time in the left eye without retinal arterial or venous occlusion. Bone marrow aspirate confirmed polycythemia vera. After the patient underwent phlebotomy, his visual acuity markedly improved and cotton wool spots in the retina disappeared. On follow-up FA, delayed arterial and venous filling, and recirculation time also became normalized. This case suggests that ischemic damage of the retina due to the great viscosity of blood may be a possible mechanism of monocular visual loss in polycythemia vera. Clinicians should be aware that isolated monocular visual loss may be an initial manifestation of polycythemia vera, since if untreated, polycythemia vera carries a high risk of permanent complications due to intravascular thrombosis.

Pseudovestibular neuritis associated with isolated insular stroke.

Damage to the cerebellum or brainstem can often cause vestibular dysfunction. Although rare, central rotational vertigo following cerebral cortical lesions has also been reported [1, 4, 5, 7]. However, no report has documented objective nystagmus associated with central rotational vertigo in cortical stroke. We describe a patient with rotational vertigo who showed mixed horizontal and torsional spontaneous nystagmus mimicking peripheral vestibulopathy in isolated insular infarction. A 51-year-old woman presented with sudden onset of word finding difficulty. She had history of Hashimoto thyroiditis. On admission, neurological examinations were unremarkable. Brain magnetic resonance imaging (MRI) revealed an acute infarction in the left insula. Small parts of the frontal operculum were also involved (Fig. 1a). One day after symptom onset, her word finding difficulty had completely resolved and the Korean version of the Western Aphasia Battery was administered on the same day showed her overall language skills were normal (Aphasia Quotient = 82.0). However, the patient started to complain of rotational vertigo on the same day. Her vertigo occurred regardless of position change, which was not accompanied by nausea or vomiting. Neurological examinations on that day showed spontaneous right beating horizontal nystagmus. The line bisection test conducted on the second day of her vertigo onset showed bisection markers shifting to the left. Video-oculography performed 7 days after onset of vertigo revealed a right beating horizontal nystagmus mixed with a clockwise torsional component, which was augmented by horizontal head-shaking test (Fig. 1b). Head impulse test was normal. Bithermal caloric tests performed 8 days after vertigo onset revealed 18% canal paresis in the left ear. After that, her vertigo gradually resolved and she intermittently experienced rotational vertigo without any other symptoms, lasting 1 or 2 min, five times a month on average. Her electroencephalogram (EEG) taken during the course of the disease was normal. Follow-up bithermal caloric tests 6 months post stroke showed 14% canal paresis in the left ear. Her vertigo completely disappeared after 9 months post stroke. Follow-up computed tomography (CT) scan performed 17 months post stroke confirmed the lesion to be restricted to the left insula (Fig. 1c). The patient was admitted to our hospital, presenting with word finding difficulty, and her brain MRI showed acute infarction in the left insula. While her word finding difficulty disappeared 1 day after onset of stroke, she developed rotational vertigo. Her spontaneous nystagmus, i.e., a right beating horizontal nystagmus with a clockwise torsional component, suggested left vestibular neuritis (VN). However, normal head impulse test and small degree of canal paresis on bithermal caloric tests were not compatible with left VN, since typical unilateral VN shows positive head impulse test, and 25% or more difference of vestibular function between the affected and nonaffected B.-Y. Ahn J.-W. Bae K.-D. Choi E.-J. Kim (&) Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, 1-10 Ami-dong, Seo-gu, Busan 602-739, Korea e-mail: eunjookim@pusan.ac.kr

Familial Creutzfeldt-Jakob disease with V180I mutation.

Creutzfeldt-Jakob disease (CJD) is an uncommon neurodegenerative disorder with an incidence of 1 per 1000,000 per year typically characterized by rapidly progressive dementia, ataxia, myoclonus and behavioral changes. Genetic prion diseases, which develop due to a mutations in the prion protein gene (PRNP), account for an estimated 10 to 15% of all CJD cases. We report a 75-yr-old woman with familial CJD carrying a V180I mutation which features late onset, slow progression, no periodic sharp wave complexes on electroencephalography, and extensive cortical ribboning with spared the cerebellum and the medial occipital lobes posterior to the parieto-occipital sulcus on MRI. To our knowledge, this is the first documented case of a point mutation at codon 180 in South Korea.

Obsessive-Compulsive Behavior Disappearing after Left Capsular Genu Infarction

This case report describes a 74-year-old woman with obsessive-compulsive behaviors that disappeared following a left capsular genu infarction. The patient’s capsular genu infarction likely resulted in thalamocortical disconnection in the cortico-basal ganglia-thalamocortical loop, which may have caused the disappearance of her obsessive-compulsive symptoms. The fact that anterior capsulotomy has been demonstrated to be effective for treating refractory obsessive-compulsive disorder further supports this hypothesis.

A case of parakinesia brachialis oscitans

There have been few described cases of hemiplegia with involntary elevation of paralyzed arms while yawning, symptoms eferred to as parakinesia brachialis oscitans [1–4]. Brain imagng shows that lesions in the internal capsule or basal ganglia are ainly associated with this movement [1–4]. We report a patient f parakinesia brachialis oscitans after acute infarction involving he right motor cortex and frontal subcortex.

PO5.35 Chronic Inflammatory Demyelinating Polyneuropathy Associated with HIV-Infection

hands according to neurophysiological criteria. Mean nerve conduction velocities from digit to C1, C2, C3 and C4 were 53.0±10.2 ms, 47.9±7.3, 38.2±8.6 ms, and 38.0±8.8 ms respectively. Mean segmental nerve conduction velocities of C1 C2, C2 C3 and C3 C4 are 41.8±16.9 m/s, 23.4±13.3 and 36.5±11.0 m/s respectively with a minimum value from C2 C3; which represents the segment of median nerve across the carpal ligament. When compared with C2-C3 segment there is a significant difference of nerve conduction velocities of C1 C2 (p < 0.001) and C3 C4 (p = 0.001). Median sensory nerve action potentials (MSNAP) at C1, C2, C3 and C4 were 1.3±8.5, 6.6±3.8, 8.1±5.1mV and 9.7±5.5mV respectively. Median motor distal latency is negatively correlated (r = .552) to NCV of C2 C3 segment (p < 0.01). Conclusions: The maximum slowing of median sensory nerve conduction velocity was obtained across the distal segment of carpal ligament.