A 63-year-old man developed an L-dopa responsive-right hemiparkinsonian syndrome and, after one year, definite ALS without cognitive changes. Family history was insignificant. Proton magnetic resonance spectroscopy ('H-MRS) detected a lactate peak in the basal ganglia and suggested further screening for mitochondrial abnormalities. Muscle biopsy showed neurogenic changes and a slight COX deficiency. Mitochondrial genetic screening resulted in multiple DNA deletions by PCR. By SSCP and PCR, no mutations in the SOD1 gene were detected. No mutation in the a-synuclein gene has been found as well. This case further indicates the need for a complete mitochondrial and SOD1 DNA analysis to gain insight into the mechanism of disease in the ALSparkinsonism variants that may parallel the SOD1 mice in the combined motoneuronal and dopaminergic degeneration.
|Number of pages||1|
|Journal||Italian Journal of Neurological Sciences|
|Publication status||Published - 1999|
ASJC Scopus subject areas
- Clinical Neurology