Dr Roser Pons

is a graduate of the Pediatric Neurology training program at Columbia Presbyterian Medical Center. Prior to that, she had several years of training in the genetics and biochemistry of mitochondrial and fatty acid oxidation disorders. Subsequent to her residency, she underwent further training in the subspecialty of Movement disorders at Columbia University. She is mainly interested in the diagnosis and management of neurological conditions of childhood that manifest themselves through abnormalities of motor control, such as dystonia, tics, parkinsonism, myoclonus, or chorea. She also has an interest in neurometabolic disorders, in particular those that affect energy metabolism.

CURRICULUM VITAE

Assistant professor, Department of Neurology, Division of Pediatric Neurology, Columbia University, New York, NY 10032.

ACADEMIC TRAINING

MD from Medical School of the Autonomous University of Barcelona, Spain (1988).

TRAINEESHIP

1989-1992: Residency in Pediatrics at Children's Hospital Vall d'Hebron, Autonomous University of Barcelona, Spain

1993-1995: Postdoctoral research fellowship in the Division of Pediatric Neurology at Columbia Presbyterian Medical Center, Columbia University, New York, USA.

1996 to May 1997:
Postdoctoral research fellowship in the Department of Biochemistry and Genetics at the Neurological Institute Carlo Besta, Milano, Italy

July 1997- June2000:
Residency in Pediatric Neurology at Columbia Presbyterian Medical Center, New York, USA.

July 2000- June 2001:
Movement Disorders Fellowship in the Department of Neurology at
Columbia University, New York, USA.

HONORS:

Invited speaker at the 1st Course "Inherited metabolic diseases: Lactic acidosis". Vall
d'Hebron Hospital, Autonomous University of Barcelona, Spain. 1996: Presentation:
"Flavoproteins" and Round Table: "Advances in the treatment of lactic acidosis".

Invited speaker at the 8th Annual meeting of the Catalan Society of Pediatrics:
"Biochemical and molecular studies of fatty acid oxidation deficiencies".

GRANTS:

Stipend grant, Catalan Society of Pediatrics: "Biochemical studies of beta-oxidation in
muscle and their implication in children" 1993.

Stipend grant, Fondo de Investigacion Sanitaria, Spanish Ministry of Health:
"Biochemical studies of beta-oxidation in muscle and their implication in children" 1993-
1994.

Stipend grant, Fondo de Investigacion Sanitaria, Spanish Ministry of Health: "Pyruvate
dehydrogenase deficiency; biochemical and molecular analysis" 1994-1995.

Stipend grant, Telethon Foundation, Italy: "Molecular and biochemical analysis of very-
long chain acyl-CoA dehydrogenase deficiency" 1995-1996.

PUBLICATIONS:

Pons R and DeVivo DC (1995). Primary and secondary carnitine deficiency
syndromes. Journal of Child Neurology 10 (Suppl) 2S8-2S24.

Pons R,.Roig M, Riudor E, Ribes A, Ortigosa L, Baldellou A, Gil-Giibernau J,
Olesti M, Navarro C, Wanders RJA. (1996). The clinical spectrum of long chain 3-
hydroxyacyl-CoA dehydrogenase deficiency. Pediatric Neurology 14 (3):236-243.

Santorelli FM, Barmada MA, Pons R, Zhang LL, DiMauro S (1996).Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mt DNA deletion. Neurology 47:1320-1323.

Pons R, Andreetta F, Wang CH, Vu TH, Bonilla E, DiMauro S, De Vivo DC (1996).
Mitochondrial myopathy simulating spinal muscle atrophy. Pediatric Neurology
15:153-158.

DeVivo DC, Pons R, Garcia-Alvarez M (1996). Update on mitochondrial diseases
Prospettive in Pediatria 25:305-316.
Pons R, Carrozo R, Tein I, Walker WF, Addonizio J, Rhead W, Miranda AF, DiMauro S,
De Vivo DC. Muscle carnitine transport in primary carnitine deficiency (1998)
Pediatric Research 42(5): 583-587.

Minetti C, Garavaglia B, Bado M, Invernizzi F, Bruno C, Rimoldi M, Pons R, Taroni F,
Cordone G (1998). Recurrent myoglobinuria as only symptom of very-long chain acyl-
Coenzyme A dehydrogenase deficiency in childhood. Neuromuscular Disorders 8 (1):3-
6.

Pons R and DiMauro S (1998). Primary and acquired L-carnitine deficiency.
Cardiologia 43 (suppl 2):671-676.

Pons R, Cavadini P, Baratta S, Bross P, Invernizzi F, Caravaglia B, Taroni F (2000)
Very-long chain acyl-CoA dehydrogenase deficienyc: Clinical biochemical and
molecular studies in phenotypically heterogeneous patients. Pediatric Neurology
22(2):98-105

Pons R and De Vivo DC (2001). Mitochondrial Disease. Current treatment options in
Neurology 3(3):271-288.

ABSTRACTS

O'Driscoll K, Garcia-Alvarez M, Pons R, De Vivo DC (1995) Molecular genetics of
pyruvate carboxylase deficiency. 24th Annual Meeting, Child Neurology Society

Pons R, Ford B, Chiriboga C, Clayton T, Hyland K, DeVivo DC (2001) Clinical
spectrum and response to treatment in patients with aromatic L-amino acid carboxylase
deficiency. 53rd Annual Meeting, American Academy of Neurology, Neurology
56:S3:A459-460

R. Pons, A.T. Andreu, C.H. Wang, N. Checcarelli, J. Lombard, D.C.De Vivo and S. DiMauro. Mitochondrial DNA abnormalities and autism. (2001) First International meeting for autism research.