Neurotransmitter abnormalities and response to supplementation in SPG11

Adeline Vanderver; Davide Tonduti; Sarah Auerbach; Johanna L. Schmidt; Sumit Parikh; Gordon C. Gowans; Kelly E. Jackson; Pamela L. Brock; Marc Patterson; Michelle Nehrebecky; Rena Godfrey; Wadih M. Zein; William Gahl; Camilo Toro

doi:10.1016/j.ymgme.2012.05.020

Neurotransmitter abnormalities and response to supplementation in SPG11

Adeline Vanderver, Davide Tonduti, Sarah Auerbach, Johanna L. Schmidt, Sumit Parikh, Gordon C. Gowans, Kelly E. Jackson, Pamela L. Brock, Marc Patterson, Michelle Nehrebecky, Rena Godfrey, Wadih M. Zein, William Gahl, Camilo Toro

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-review

Abstract

Objective: To report the detection of secondary neurotransmitter abnormalities in a group of SPG11 patients and describe treatment with l-dopa/carbidopa and sapropterin. Design: Case reports. Setting: National Institutes of Health in the Undiagnosed Disease Program; Children's National Medical Center in the Myelin Disorders Bioregistry Program. Patients: Four SPG11 patients with a clinical picture of progressive spastic paraparesis complicated by extrapyramidal symptoms and maculopathy. Interventions: l-Dopa/carbidopa and sapropterin. Results: 3/4 patients presented secondary neurotransmitter abnormalities; 4/4 partially responded to l-dopa as well as sapropterin. Conclusions: In the SPG11 patient with extrapyramidal symptoms, a trial of l-dopa/carbidopa and sapropterin and/or evaluation of cerebrospinal fluid neurotransmitters should be considered.

Original language	English
Pages (from-to)	229-233
Number of pages	5
Journal	Molecular Genetics and Metabolism
Volume	107
Issue number	1-2
DOIs	https://doi.org/10.1016/j.ymgme.2012.05.020
Publication status	Published - Sept 2012

Keywords

Dopa responsive dystonia
Neurotransmitter disorder
Spastic paraparesis
SPG11

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics
Endocrinology
Endocrinology, Diabetes and Metabolism

Access to Document

10.1016/j.ymgme.2012.05.020

Cite this

Vanderver, A., Tonduti, D., Auerbach, S., Schmidt, J. L., Parikh, S., Gowans, G. C., Jackson, K. E., Brock, P. L., Patterson, M., Nehrebecky, M., Godfrey, R., Zein, W. M., Gahl, W., & Toro, C. (2012). Neurotransmitter abnormalities and response to supplementation in SPG11. Molecular Genetics and Metabolism, 107(1-2), 229-233. https://doi.org/10.1016/j.ymgme.2012.05.020

@article{1a5ddaa0bce541b0810007aec8849df5,

title = "Neurotransmitter abnormalities and response to supplementation in SPG11",

abstract = "Objective: To report the detection of secondary neurotransmitter abnormalities in a group of SPG11 patients and describe treatment with l-dopa/carbidopa and sapropterin. Design: Case reports. Setting: National Institutes of Health in the Undiagnosed Disease Program; Children's National Medical Center in the Myelin Disorders Bioregistry Program. Patients: Four SPG11 patients with a clinical picture of progressive spastic paraparesis complicated by extrapyramidal symptoms and maculopathy. Interventions: l-Dopa/carbidopa and sapropterin. Results: 3/4 patients presented secondary neurotransmitter abnormalities; 4/4 partially responded to l-dopa as well as sapropterin. Conclusions: In the SPG11 patient with extrapyramidal symptoms, a trial of l-dopa/carbidopa and sapropterin and/or evaluation of cerebrospinal fluid neurotransmitters should be considered.",

keywords = "Dopa responsive dystonia, Neurotransmitter disorder, Spastic paraparesis, SPG11",

author = "Adeline Vanderver and Davide Tonduti and Sarah Auerbach and Schmidt, {Johanna L.} and Sumit Parikh and Gowans, {Gordon C.} and Jackson, {Kelly E.} and Brock, {Pamela L.} and Marc Patterson and Michelle Nehrebecky and Rena Godfrey and Zein, {Wadih M.} and William Gahl and Camilo Toro",

year = "2012",

month = sep,

doi = "10.1016/j.ymgme.2012.05.020",

language = "English",

volume = "107",

pages = "229--233",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

publisher = "Academic Press Inc.",

number = "1-2",

}

TY - JOUR

T1 - Neurotransmitter abnormalities and response to supplementation in SPG11

AU - Vanderver, Adeline

AU - Tonduti, Davide

AU - Auerbach, Sarah

AU - Schmidt, Johanna L.

AU - Parikh, Sumit

AU - Gowans, Gordon C.

AU - Jackson, Kelly E.

AU - Brock, Pamela L.

AU - Patterson, Marc

AU - Nehrebecky, Michelle

AU - Godfrey, Rena

AU - Zein, Wadih M.

AU - Gahl, William

AU - Toro, Camilo

PY - 2012/9

Y1 - 2012/9

N2 - Objective: To report the detection of secondary neurotransmitter abnormalities in a group of SPG11 patients and describe treatment with l-dopa/carbidopa and sapropterin. Design: Case reports. Setting: National Institutes of Health in the Undiagnosed Disease Program; Children's National Medical Center in the Myelin Disorders Bioregistry Program. Patients: Four SPG11 patients with a clinical picture of progressive spastic paraparesis complicated by extrapyramidal symptoms and maculopathy. Interventions: l-Dopa/carbidopa and sapropterin. Results: 3/4 patients presented secondary neurotransmitter abnormalities; 4/4 partially responded to l-dopa as well as sapropterin. Conclusions: In the SPG11 patient with extrapyramidal symptoms, a trial of l-dopa/carbidopa and sapropterin and/or evaluation of cerebrospinal fluid neurotransmitters should be considered.

AB - Objective: To report the detection of secondary neurotransmitter abnormalities in a group of SPG11 patients and describe treatment with l-dopa/carbidopa and sapropterin. Design: Case reports. Setting: National Institutes of Health in the Undiagnosed Disease Program; Children's National Medical Center in the Myelin Disorders Bioregistry Program. Patients: Four SPG11 patients with a clinical picture of progressive spastic paraparesis complicated by extrapyramidal symptoms and maculopathy. Interventions: l-Dopa/carbidopa and sapropterin. Results: 3/4 patients presented secondary neurotransmitter abnormalities; 4/4 partially responded to l-dopa as well as sapropterin. Conclusions: In the SPG11 patient with extrapyramidal symptoms, a trial of l-dopa/carbidopa and sapropterin and/or evaluation of cerebrospinal fluid neurotransmitters should be considered.

KW - Dopa responsive dystonia

KW - Neurotransmitter disorder

KW - Spastic paraparesis

KW - SPG11

UR - http://www.scopus.com/inward/record.url?scp=84866167220&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84866167220&partnerID=8YFLogxK

U2 - 10.1016/j.ymgme.2012.05.020

DO - 10.1016/j.ymgme.2012.05.020

M3 - Article

C2 - 22749184

AN - SCOPUS:84866167220

SN - 1096-7192

VL - 107

SP - 229

EP - 233

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 1-2

ER -

Neurotransmitter abnormalities and response to supplementation in SPG11

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this