Martin Paucar Arce

I am a neurologist at the Karolinska University Hospital, my main areas of interest are movement disorders. My main areas of research are hyperkinesias and genetics, we provide care to patients affected by Huntington’s disease, ataxias and related disorders. Related disorders in this context mean familial spastic paraplegias. There is an important overlay between ataxias and spastic paraplegias. The care we provide for patients affected by these conditions is multidisciplinary.  In 2017, I defended a thesis on neurogenetics in which we described the first families in Sweden affected by a rare condition called spinocerebellar ataxia type 4 (SCA4). This thesis paved the way to the discovery of the underlying gene mutation causing SCA4 by our group in October 2023 (Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs | medRxiv). Soon after other groups confirmed our findings on SCA4. During my time as a postdoctoral fellow, we have made contributions to the field e.g. by identifying a gene modifier for spinocerebellar ataxia type 3 (SCA3) and have provided functional evidence for several pathogenic variants associated with ataxia disorders.  Over the years, we have built up cooperation networks with other researchers in the area.  

I am a regular lecturer at neurological conferences at home and abroad, at the Karolinska University Hospital and in courses for PhD and master students at the Karolinska Institutet.