21st International Congress » Rare Genetic and Metabolic Diseases

1:45pm-3:15pm

A Pair of Brothers with Aceruloplasminemia Due to a Novel Nonsense Mutation: Unusual Phenotype and Neurological Improvement After Iron-Chelation Therapy with Deferasirox.

F. Valzania, F. Cavallieri, M. Fiorini, S. Contardi, F. Ferrara, E. Menozzi, S. Scarlini, F. Cavalleri, M. Molinari, A. Pietrangelo, E. Corradini (Modena, Italy)

1:45pm-3:15pm

An unusual presentation of tyrosine hydroxylase deficiency

L. Katus, S. Frucht (New York, NY, USA)

1:45pm-3:15pm

Assessments of Movement Disorder Symptoms and Functional Impacts in Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)

A. Bowden, S. Blair, K. Wesdock, M. Haller, M. Brandabur, P. Collins, A. Skrinar, J. Mayhew (Novato, CA, USA)

1:45pm-3:15pm

Atypical and slowly progressive FTDP-17 caused by MAPT p.R406W mutations – similarities to AD and PSP.

E. Ygland, D. van Westen, E. Englund, R. Rademakers, Z. Wszolek, K. Nilsson, C. Nilsson, O. Hansson, L. Gustafson, A. Puschmann (Lund, Sweden)

1:45pm-3:15pm

Cerebrotendinous xanthomatosis without tendon xanthoma: a diagnostic challenge.

S. Souki, L. Vasconcellos, M. Spitz, J. Pereira, V. Marussi, A. Carrié, P. Couvert (Rio de Janeiro, Brazil)

1:45pm-3:15pm

Congenital mirror movements: When the left hand doesn’t know what the right is doing

M. Boca, A. Whone (Bristol, United Kingdom)

1:45pm-3:15pm

Deferiprone combined with phlebotomy for aceruloplasminemia

L.H.P. Vroegindeweij, J.G. Langendonk, J.H.P. Wilson, A.J.W. Boon (Rotterdam, Netherlands)

1:45pm-3:15pm

Development of a Paroxysmal Movement Disorder Diary for Patients with Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)

R. Hall, S. Kilgariff, P. Collins, M. Brandabur, R. Arbuckle, A. Bowden (Macclesfield, United Kingdom)

1:45pm-3:15pm

Disappearance of the clinical and imaging manifestations in Wilson’s disease after controlled therapy with tetrathiomolybdate and zinc

I. Posada, C. Garfia, F. Ostos, A. Ramos (Madrid, Spain)

1:45pm-3:15pm

Familial Creutzfeldt-Jakob Disease with an E200K Mutation in Peru: A Case Report

H. Sarapura-Castro, C. Cosentino, L. Torres-Ramirez, P. Parchi, A. Vishnevetsky, M. Inca-Martinez, E. Figueroa-Ildefonso, P. Mazzetti, M. Cornejo-Olivas (Lima, Peru)

1:45pm-3:15pm

Familial idiopathic basal ganglia calcification with novel SLC20A2 gene variant

B. Barton (Chicago, IL, USA)

1:45pm-3:15pm

FXTAS, PD, and ET subjects demonstrate distinct gait, balance and tremor deficits under normal, environmentally challenging, and dual-task conditions

E. Robertson, D. Hall, A. McAsey, M. Swanson, A. Bery, C. Huml, E. Berry-Kravis, J. O'Keefe (Chicago, IL, USA)

1:45pm-3:15pm

Idiopathic acquired sporadic (non-wilsonian) Hepatocerebral degeneration

S. Desai, P. Thakkar, S. Seth, b. vaishnav, P. Buch, J. Mannari (Anand, India)

1:45pm-3:15pm

Multiple myeloma induced parkinsonism

H. DS, V. Paramanandam, P.c. N (Chennai, India)

1:45pm-3:15pm

Neurological worsening in patients undergoing treatment for Wilson disease: Frequency, causes and outcomes.

A. Aggarwal, M. Bhatt (Mumbai, India)

1:45pm-3:15pm

Non-motor symptoms in ACDY5-associated disease

C. Amlang, M. Vidailhet, M. Amlang (Bronx, NY, USA)

1:45pm-3:15pm

Perrault syndrome: CLPP-Knock-Out mouse brain shows accumulation of mitoribosomes

J. Key, J. Heidler, S. Torres-Odio, G. Auburger, I. Wittig, S. Gispert (Frankfurt am Main, Germany)

1:45pm-3:15pm

Phenotype of PLP1-related disorder caused by novel mutation: a case report

N. Kresojevic, I. Petrovic, V. Dobricic, A. Tomic, M. Svetel, V. Kostic (Belgrade, Serbia)

1:45pm-3:15pm

Putaminal Atrophy Gradient in X-linked Dystonia-Parkinsonism

H. Hanßen, M. Heldmann, C. Diesta, R. Rosales, A. Domingo, T. Münte, C. Klein, N. Brüggemann (Luebeck, Germany)

1:45pm-3:15pm

Saccadic impairment in patients with Gaucher’s disease type 3

J. Blume, C. Kämpe Björkvall, M. Machaczka, P. Svenningsson (Stockholm, Sweden)

1:45pm-3:15pm

Spg 11 gene mutation associated autosomal recessive hereditary spastic paraplegia presenting with partially levodopa responsive parkinsonism, stereotypy and cognitive decline.

S. Desai, S. Singh, V. Patel, J. Sheth (Anand, India)

1:45pm-3:15pm

Treatable Rare Movement Disorders

E. Gatto, H. Jinnah, A. Espay, J. Jankovic, K. Bhatia, M. Rodriguez, V. Fung, F. Cardoso, M. Rodriguez Oroz, A. Albanese, A. Muenchau, A. Chade, M. de Koning-Tijssen, M. Stamelou, P. Garcia Ruiz, C. Uribe Roca, F. Morgante, A. Dela Cerda, L. Schoels, J. Miyasaki, J. Ferreira (Buenos Aires, Argentina)

1:45pm-3:15pm

WILSON’S DISEASE: A Mongolian case

U. Dashdorj, S. Jambal (Ulaanbaatar 51, Mongolia)