TY - JOUR T1 - Dystonia, tremor, and parkinsonism in a 54 year old man with 2-hydroxyglutaric aciduria JF - Journal of Neurology, Neurosurgery & Psychiatry JO - J Neurol Neurosurg Psychiatry SP - 1362 LP - 1363 DO - 10.1136/jnnp.2003.033571 VL - 75 IS - 9 AU - W E Owens AU - M S Okun Y1 - 2004/09/01 UR - http://jnnp.bmj.com/content/75/9/1362.abstract N2 - Glutaric aciduria is often considered to be a rapidly progressing dementing illness with only occasional extrapyramidal symptoms, usually described as dystonia.1–7 We present a case of late onset 2-hydroxygluaric aciduria and slowly progressive dystonia and parkinsonism. A 54 year old man was referred to the University of Florida movement disorders center for management of “end stage Parkinson’s disease”. He was diagnosed with developmental delay and mild cerebral palsy by his paediatrician, for a failure to meet motor milestones. He had below average grades in school and graduated high school two years behind his age matched peers. At age 26, he noticed a mild intention tremor in his right hand, a mild head tremor, and mild unsteadiness in walking. These were assumed to be potentially parkinsonian features, and later in his 30s he was given the assumed diagnosis of Parkinson’s disease. He was treated with levodopa, dopamine agonists, a monoamine oxidase inhibitor, and anticholinergics, which all failed to help his symptoms. He was gainfully employed by the city in a maintenance department until being fired in his mid-30s for incompetence. At the time of his clinic appointment, his mother noted progressive difficulty with swallowing, balance difficulties, and aggressive behaviour. There was no history of exposure to neuroleptics, and he did not smoke or drink alcohol. His brother also had a tremor. On neurological examination he was alert and oriented to person and place. His memory was tested (3/3 registration … ER -