Spinocerebellar ataxia type 6 presenting with parkinsonism, pre-synaptic dopaminergic dysfunction and hyperechogenicity of the substantia nigra

J Neurol Sci. 2017 May 15:376:60-62. doi: 10.1016/j.jns.2017.02.038. Epub 2017 Feb 20.

Authors

José Luiz Pedroso¹, Guilherme de Carvalho Campos-Neto², Danielli Souza Speciali², Orlando G Barsottini³, Edson Bor-Seng-Shu², André C Felicio⁴

Affiliations

¹ Hospital Israelita Albert Einstein, Sao Paulo, Brazil; Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address: zeluizpedroso@yahoo.com.br.
² Hospital Israelita Albert Einstein, Sao Paulo, Brazil.
³ Hospital Israelita Albert Einstein, Sao Paulo, Brazil; Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil.
⁴ Hospital Israelita Albert Einstein, Sao Paulo, Brazil. Electronic address: cf.andre@gmail.com.

PMID: 28431629
DOI: 10.1016/j.jns.2017.02.038

No abstract available

Publication types

Case Reports
Letter
Video-Audio Media

MeSH terms

Calcium Channels / genetics
Diagnosis, Differential
Dopamine Plasma Membrane Transport Proteins / metabolism*
Humans
Male
Middle Aged
Parkinsonian Disorders / diagnostic imaging
Parkinsonian Disorders / genetics
Parkinsonian Disorders / physiopathology*
Spinocerebellar Ataxias / diagnostic imaging
Spinocerebellar Ataxias / genetics
Spinocerebellar Ataxias / physiopathology*
Substantia Nigra / diagnostic imaging*
Substantia Nigra / metabolism

Substances

CACNA1A protein, human
Calcium Channels
Dopamine Plasma Membrane Transport Proteins