SPG7 with parkinsonism responsive to levodopa and dopaminergic deficit

José Luiz Pedroso; Thiago Cardoso Vale; Fabiana Lucas Bueno; Victor Hugo Rocha Marussi; Lázaro Luís Faria do Amaral; Marcondes C França Jr; Orlando G Barsottini

doi:10.1016/j.parkreldis.2017.12.004

SPG7 with parkinsonism responsive to levodopa and dopaminergic deficit

Parkinsonism Relat Disord. 2018 Feb:47:88-90. doi: 10.1016/j.parkreldis.2017.12.004. Epub 2017 Dec 11.

Authors

José Luiz Pedroso¹, Thiago Cardoso Vale², Fabiana Lucas Bueno³, Victor Hugo Rocha Marussi⁴, Lázaro Luís Faria do Amaral⁴, Marcondes C França Jr⁵, Orlando G Barsottini⁶

Affiliations

¹ Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil. Electronic address: jlpedroso.neuro@gmail.com.
² Department of Internal Medicine, Universidade Federal de Juiz de Fora, MG, Brazil.
³ Samaritano Hospital, Division of Nuclear Medicine, Sao Paulo, SP, Brazil.
⁴ Medimagem, Beneficência Portuguesa, Sao Paulo, SP, Brazil.
⁵ Department of Neurology, Universidade de Campinas, Campinas, SP, Brazil.
⁶ Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.

PMID: 29246844
DOI: 10.1016/j.parkreldis.2017.12.004

Abstract

We report a 55-year-old woman with a long history of a gait disturbance that was followed by dysarthria and urinary incontinence. She underwent brain MRI, SPECT with TRODAT imaging and whole-exome sequencing, revealing the diagnosis of SPG7. She developed parkinsonism responsive to levodopa, expanding the phenotype of complex SPG7.

Keywords: Ataxia; Hereditary spastic paraplegias; Parkinsonism.

Publication types

Case Reports
Letter
Video-Audio Media

MeSH terms

ATPases Associated with Diverse Cellular Activities / genetics*
Brain / diagnostic imaging
Brain / drug effects
Brain / metabolism
Dopamine / deficiency*
Dopamine Agents / therapeutic use*
Female
Humans
Levodopa / therapeutic use*
Metalloendopeptidases / genetics*
Middle Aged
Organotechnetium Compounds / pharmacokinetics
Parkinsonian Disorders / diagnostic imaging
Parkinsonian Disorders / drug therapy
Parkinsonian Disorders / genetics*
Parkinsonian Disorders / metabolism
Tomography, Emission-Computed, Single-Photon
Tropanes / pharmacokinetics

Substances

Dopamine Agents
Organotechnetium Compounds
Tropanes
technetium Tc 99m TRODAT-1
Levodopa
Metalloendopeptidases
SPG7 protein, human
ATPases Associated with Diverse Cellular Activities
Dopamine