2019 International Congress » Rare Genetic and Metabolic Diseases

1:45pm-3:15pm

5 cases Static Encephalopathy of childhood with NeuroDegeneration in Adulthood (OMIM 300894) in children

M. Bobylova, N. Perumova, T. Prygunova, K. Mukhin (Moscow, Russian Federation)

1:45pm-3:15pm

A case of Aceruloplasminemia with vertical saccadic eye movement abnormalities

O. Dogu, N. öksüz, H. Kaleagasi (Mersin, Turkey)

1:45pm-3:15pm

A case report of two siblings Aicardi-Goutières Syndrome type 2

C. Fujiwara Murakami, E. Nakagawa, A. Meira, F. Germiniani, E. Pereira, H. Ghizoni Teive (Curitiba, Brazil)

1:45pm-3:15pm

A detailed delineation of the clinical phenotype, natural history and quality of life in patients with North Sea Progressive Myoclonus Epilepsy

S. Polet, L. Koens, M. van Egmond, D. Sival, E. Brusse, M. Willemsen, R. Lambrechts, O. Brouwer, G. Drost, H. Kremer, J. de Vries, M. de Koning-Tijssen, T. de Koning (Groningen, Netherlands)

1:45pm-3:15pm

A study of Mutation in ATP7B gene and its correlation with clinical phenotype and radiological features in patients of Wilson Disease-a population based study in a tertiary care institute in eastern India

J. Chaudhuri, T. Biswas, A. Biswas, S. Biswas, G. Gangopadhyay, A. Dutta (Kolkata, India)

1:45pm-3:15pm

A Systems Approach Model for Pantothenate Kinase-Associated Neurodegeneration (PKAN)- Assessment and Treatment

S. Baser, C. Muniz, F. Middleton, R. Ericson, C. Bass (Pittsburgh, PA, USA)

1:45pm-3:15pm

Acquired (non-Wilsonian) hepatocerebral degeneration: case report

E. Gracheva, I. Miliukhina, A. Sokolov, YU. Seliverstov (St.petersburg, Russian Federation)

1:45pm-3:15pm

Acquired hepatocerebral degeneration treated with calcium disodium edetate chelation

Z. Voysey, L. Azzopardi, B. Fiddes, S. Bradberry (Romford, United Kingdom)

1:45pm-3:15pm

Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?

L. Jacinto-Scudeiro, G. Machado, A. Ayres, D. Burguêz, M. Polese-Bonatto, C. González-Salazar, M. Siebert, M. França Jr, M. Olchik, J. Saute (Porto Alegre, Brazil)

1:45pm-3:15pm

Associations of Genetic, Epigenetic and Phenotypic Measures in the Dominican Republic PKAN Cohort

F. Middleton, A. Espinoza, D. Larocca, R. Ericson, M. Santana Jimenez, K. Wagner, P. Stoeter, C. Bass, C. Muniz, S. Baser (Pittsburgh, PA, USA)

1:45pm-3:15pm

Auditory-Perceptual Voice and Speech Evaluation in ATP1A3-positive Patients

M. Finger, L. Madden, K. Ruckart, K. Downes, J. Cook, B. Snively, A. Brashear, I. Haq (Winston-Salem, NC, USA)

1:45pm-3:15pm

Case report: Chorea-acynthocytosis with two compoud heterozygous VPS13A large deletions

D. Spieler, A. Mühlbäck, A. Velayos-Baeza, F. Castrop, C. Maegerlein, J. Slotta-Hispenina, B. Bader, B. Haslinger, J. Klempir, A. Danek (Freiburg, Germany)

1:45pm-3:15pm

Case Series of 3 Individuals of African Descent with Dentatorubral-Pallidoluysian Atrophy

C. Kutz, C. Bundukamara (Colorado Springs, CO, USA)

1:45pm-3:15pm

Cerebrotendinous Xanthomatosis presenting Parkinsonism with bilateral iron accumulation in the basal ganglia

J. Li, S. Liu, E. Xu, H. Qiao, W. Mao, P. Chan (Beijing, China)

1:45pm-3:15pm

Characterization of cerebrospinal fluid profile in hereditary spastic paraparesis 10

M. Andréasson, K. Lagerstedt-Robinson, K. Samuelsson, G. Solders, K. Blennow, M. Paucar, P. Svenningsson (Stockholm, Sweden)

1:45pm-3:15pm

Clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) studied with whole exome sequencing (WES)

Z. Xu, Z. Lu, CK. Lim, SC. Low, E. Ng, AH. Tan, SY. Lim, EK. Tan, LCS. Tan (Singapore, Singapore)

1:45pm-3:15pm

Clinical outcome in early-treated Sepiapterine Reductase Deficiency (SRD): A case report

F. Nardecchia, S. Galosi, F. Manti, MT. Giannini, C. Carducci, M. Tolve, V. Leuzzi (Rome, Italy)

1:45pm-3:15pm

Correlations between genetics and cortical dysfunction of paroxysmal kinesgenic dyskinesia

Y. Liu, Y. Chen, Y. Wu (Taipei, Taiwan)

1:45pm-3:15pm

Creutzfeldt-Jakob disease with a M232R substitution (CJD232) masquerading as parkinson look-alike syndrome

KO. Jung, H. Kim, JH. Park (Bucheon-Si, Republic of Korea)

1:45pm-3:15pm

Detecting unsuspected mitochondrial disease: an algorithmic approach

N. Pulley, C. Condon, I. Haq (Winston-Salem, NC, USA)

1:45pm-3:15pm

Different clinical entities of Segawa syndrome within a family

J. Sarangerel (Ulaanbaatar, Mongolia)

1:45pm-3:15pm

Digenic inheritance of WARS2 and CHRNA6 mutations in infantile parkinsonism

S. Galosi, S. Martinelli, V. Cordeddu, S. Fucile, C. Limatola, R. Carrozzo, M. Tartaglia, V. Leuzzi (Rome, Italy)

1:45pm-3:15pm

Distinct phenotypic expression in a large PKAN cohort in the Dominican Republic

S. Baser, C. Muniz, F. Middleton, R. Ericson, M. Santana Jimenez, C. Bass (Pittsburgh, PA, USA)

1:45pm-3:15pm

Dysphagia in Adults with Niemann-Pick Disease Type C

C. Lewis, M. Walterfang, A. Vogel (Melbourne, Australia)

1:45pm-3:15pm

Dystonia as a main clinical feature of AAMR with a novel GMPPA mutation:A case report

SL. Li, H. Wang, L. Wang, Y. Guo, XH. Wan, HP. Li, JY. Shi (Peking, China)

1:45pm-3:15pm

Encephalomyelopathy Due to Cerebrotendinous Xanthomatosis

ACO. Oliveira, LFV. Vasconcellos, BXC. Cordeiro, LLN. Najar (Rio de Janeiro, Brazil)

1:45pm-3:15pm

Expanding the Phenotype of KCNA2 Mutation: Tics and Stereotypies

J. Legacy, M. Burns, A. Elkouzi, W. Deeb, I. Malaty (Gainesville, FL, USA)

1:45pm-3:15pm

Familial Creutzfeldt-Jakob disease with D178N and Met129Val

N. Omer, E. Kahana, S. Simchoni, A. Bar-Shira, T. Naiman, A. Orr-Urtreger, B. Aminov, D. Klepikov, N. Giladi, N. Bregman (Tel Aviv, Israel)

1:45pm-3:15pm

Fragile X Gray Zone Alleles in Men are associated with Parkinsonism

D. Hall, S. Nag, E. Berry-Kravis, A. Ali, B. Ouyang, Y. Liu, A. Buchman, D. Bennett (Chicago, IL, USA)

1:45pm-3:15pm

HGprt deficiency affects early brain development in vivo in a mouse model of Lesch-Nyhan disease

J. Witteveen, S. Loopstok, L. Luque Ballesteros, A. Boonstra, N. van Bakel, W. van Boekel, G. Martens, J. Visser, S. Kolk (Nijmegen, Netherlands)

1:45pm-3:15pm

HGprt deficient brain RNA expression patterns reveal specific abnormalities related to neuronal function in a mouse model of Lesch-Nyhan disease.

J. Visser, C. Klemann, G. Martens (Nijmegen, Netherlands)

1:45pm-3:15pm

Hyperammonemic Encephalopathy as Primary Cause of Movement Disorders: Report of Two Cases

G. Fabiani, FMB. Germiniani, S. Raskin, HAG. Teive (Curitiba, Brazil)

1:45pm-3:15pm

Hyperkinetic Movement Disorders in Congenital Disorders of Glycosylation

G. Mostile, R. Barone, A. Nicoletti, R. Rizzo, D. Martinelli, L. Sturiale, A. Fiumara, J. Jankovic, M. Zappia (Catania, Italy)

1:45pm-3:15pm

Hypophosphatasia presenting as parkinsonism with compound heterozygous mutations in ALPL gene

WF. Yu, ZX. Zhao, LW. Liu, JL. Hu, FF. Wang, YM. Liu (Jinan, China)

1:45pm-3:15pm

Internal pallidum stimulation reduces mobile generalized dystonia in Wilson’s disease

S. Paschen, A. Helmers, J. Volkmann, G. Deuschl, D. Berg, KE. Zeuner (Kiel, Germany)

1:45pm-3:15pm

Longitudinal analysis of disease progression in a large PKAN cohort in the Dominican Republic

C. Muniz, S. Baser, R. Ericson, M. Santana Jimenez, C. Bass, F. Middleton (Santo Domingo, Dominican Republic)

1:45pm-3:15pm

Looking “cherry red spot myoclonus” in the eyes

GM. Riboldi, J. Martone, JR. Rizzo, T. Hudson, S. Frucht, J. Rucker (New York, NY, USA)

1:45pm-3:15pm

MDS Rare Movement Disorders Study Group Global Genetic Testing Survey: exploring the unmet needs

R. Walker, H. Jinnah, M. Rodriguez Violante, C. Gonzalez, E. Gatto (New York, NY, USA)

1:45pm-3:15pm

Movement disorders in late-onset inborn errors of metabolism – a new diagnostic algorithm

L.. Koens, M. Tijssen, T. de Koning (Groningen, Netherlands)

1:45pm-3:15pm

Neurological Wilson Disease: Clinical Aspects and Evolution in 10 Cases

Y. Mecheri, F. Serradj, A. Boulefkhad, H. Semra, A. Mzahem, A. Hamri, Y. Sifi (Constantine, Algeria)

1:45pm-3:15pm

Neuropathology in a case of HD-like syndrome caused by mutations in RNF216

P. Santens, A. Sieben, B. Dermaut (Ghent, Belgium)

1:45pm-3:15pm

NKX2-1-Related Disorder with Cerebral Folate Deficiency

J. Maclean, Q. Luc, L. Ramos-Platt, S. Saitta, C. Quindipan (Los Angeles, CA, USA)

1:45pm-3:15pm

Novel Mutation of NUS1 Gene Presenting With Developmental And Epileptic Encephalopathy and Movement Disorders

N. Prakash, N. Mencacci, C. Zadikoff, L. Kinsley, T. Simuni, S. Lubbe, D. Krainc (Chicago, IL, USA)

1:45pm-3:15pm

Paroxysmal asymmetric dystonic arm posturing – a less recognised but characteristic manifestation of ATP1A3-related disease

B. Balint, C. Stephen, V. Udani, C. Sankhla, N. Barad, A. Lang, K. Bhatia (Boston, MA, USA)

1:45pm-3:15pm

PEX 16: EXPANDING THE CLINICAL SPECTRUM OF PEROXISOMAL BIOGENESIS DISORDERS

D. N, J. Agadi (Bangalore, India)

1:45pm-3:15pm

Prevalence of Oropharyngeal Dysphagia in Hereditary Spastic Paraplegias

L. Jacinto-Scudeiro, G. Machado, A. Ayres, D. Burguêz, M. Polese-Bonatto, C. González-Salazar, M. Siebert, M. França Jr, M. Olchik, J. SAUTE. (Porto Alegre, Brazil)

1:45pm-3:15pm

Rapidly onset progressive generalised dystonia parkinsonism in a young Indian male with rare FBXO 7 genetic mutation

S. Desai, N. Pampaniya, K. Mori, K. Shah (Vadodara, India)

1:45pm-3:15pm

Super-urgent liver transplantation for a 62 year old with Wilson’s disease presenting with acute liver failure

S. Shribman, A. Shenoy, W. Griffiths, A. Gimson, T. Warner (London, United Kingdom)

1:45pm-3:15pm

Temporal Emergence of Symptoms and Functional Impairments in Patients With Pantothenate Kinase-Associated Neurodegeneration (PKAN)

F. Greblikas, HA. Jinnah, T. Klopstock, A. Videnovic, C. Burns (San Diego, CA, USA)

1:45pm-3:15pm

The effect of ATP13A2/PARK9 levels on a-syn spreading in mice brains

T. Tsunemi, Y. Ishiguro, A. Okuzumi, A. Yoroisaka, N. Nukina, N. Hattori (Tokyo, Japan)

1:45pm-3:15pm

The Sequelae of Kernicterus

Z. Aldaajani, E. Ali (Dhahran, Saudi Arabia)

1:45pm-3:15pm

Transcranial sonography in carriers of Gaucher disease

F. Omrani, N. Mohammadzade, M. Rohani, Z. Omrani, B. Zamani (Tehran, Islamic Republic of Iran)

1:45pm-3:15pm

Wislon disease: clinical specificities of the disease course under normal ceruloplasmin in the blood, a clinical case from Kyrgyzstan

N. Chekeeva (Bishkek, Kyrgyzstan)

1:45pm-3:15pm

X-chromosomal Dystonia-Parkinsonism: a systematic review of published and unpublished clinical data

M. Pauly, M. Ruiz López, H. Madoev, R. Rosales, C. Diesta, R. Jamora, S. Petkovic, N. Brüggemann, A. Westenberger, C. Klein, A. Domingo (Lübeck, Germany)