PETALING JAYA: There is still no proven treatment to slow the progression of spinocerebellar ataxia (SCA), although researchers are exploring several promising avenues, including gene therapy and drugs targeting the abnormal proteins linked to the disorder.
Universiti Kebangsaan Malaysia Faculty of Medicine professor and Hospital Canselor Tuanku Muhriz consultant neurologist Prof Datin Dr Norlinah Mohamed Ibrahim said current medicines could help relieve symptoms, but had not been shown to delay the progression of SCA.
SCA causes progressive degeneration of the cerebellum and may also affect the spinal cord, impairing balance, coordination, speech and eye movements.
Norlinah said mutations associated with several SCA types produced abnormal proteins that could accumulate in the brain, disrupting cell function and eventually causing neuronal death.
Current treatment includes riluzole, a drug originally developed for amyotrophic lateral sclerosis, which affects vital brain signals.
“A large clinical trial showed some improvement, which is why I prescribe it to patients with ataxia based on the available evidence.
“But the improvement is not substantial. Some patients respond and some do not, and none of the medicines has been shown to slow disease progression,” she told theSun.
She added that another avenue explored locally is trehalose, a compound investigated by UKM researchers for its potential to clear abnormal proteins.
“In the mouse model of SCA, it showed improvement. Our first study involving patients also indicated some improvement, but the subsequent randomised controlled trial was negative.”
She also said the method of delivering trehalose could be one limitation, as orally administered trehalose may not reach the brain adequately.
Norlinah said more direct approaches involving the cerebrospinal fluid or brain would be invasive.
She added that researchers elsewhere are also examining transcranial magnetic stimulation and transcranial direct-current stimulation over the cerebellum.
“One centre may report positive findings, but another trying to replicate the same protocol obtains negative results.
“We therefore do not know yet whether these approaches will help.”
She also said international studies are also investigating gene therapy and antisense oligonucleotides administered into the cerebrospinal fluid.
Norlinah described them as promising possibilities but emphasised that they were not established treatments.
“I think we may see something within the next five to 10 years, although it may take closer to 10 years.” – By Faiz Ruzman