INTRODUCTIONEssential tremor (ET) is one of the most prevalent movement disorders [1,2], and γ-aminobutyric acid (GABA) is thought to be the main neurotransmitter involved in the ET pathophysiology. The amino acid glutamate has also been implicated in ET [3]. Although the amino acid aspartate is less potent than glutamate in excitatory neurotransmission under normal physiological conditions, aspartate is one of the two major endogenous excitatory amino acids [4], however, its pathogenic role in ET remains unknown. We describe here two cases of typical ET with aspartic acidemia and review the literature in this field.
CASE REPORTCase 1 was a 42-year-old man (height: 175.9 cm; weight: 75.7 kg) who first noticed a nervous tremor and writing tremor at the age of 30. A head tremor developed at the age of 38. There was no familial history of tremor. Excess sweating was observed on his palms and plantars. Neurological examination revealed no abnormalities, except for a fine head tremor at rest and a bilateral fine postural tremor of the finger. Serum thyroid stimulating hormone (TSH) and free T4 levels were normal. Anti-thyroglobulin antibody levels were negative. Plasma aspartic acid was 9.8 nmol/ml (normal: <2.4 nmol/ml), glutamic acid was 87.6 nmol/ml (normal: 12.6-62.5 nmol/ml), taurine was 224.2 nmol/ ml (normal: 39.5-93.2 nmol/ml), asparagine was 42.4 nmol/ml (normal: 44.7-96.8 nmol/ml), and β-alanine was 4.6 nmol/ml (normal: trace). Blood levels of the other 34 amino acids were within or near their normal ranges (Table). Brain magnetic resonance imaging (MRI) demonstrated no abnormalities ( Figure A, B).Case 2 was a 71-year-old woman (height: 154 cm, weight: 52 kg) who first noticed a head tremor at the age of 65. She had no family history of tremor. Upon examination, a head tremor was observed at rest, as well as a bilateral postural and kinetic hand tremor. Serum TSH, free T3, and free T4 levels were normal. Plasma aspartic acid was 4.7 nmol/ml, glutamic acid was 65.1 nmol/ml, taurine was 116.1 nmol/ml, and asparagine was 44.3 nmol/ml. Blood levels of the other 35 amino acids were near their normal ranges (Table). Brain MRI revealed no definitive evidence of abnormality ( Figure C, D). Kurume Medical Journal, 63, 81-84, 2016 Summary: We describe two cases of typical essential tremor with aspartic acidemia and mildly increased concentrations of plasma glutamic acid. Although this is a preliminary report, we emphasize the possibility of using amino acids, including aspartic acid, as biomarkers for the detection of essential tremor.