Conditions / Genetic
essential tremor 6
info · Genetic
An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on
An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21.
Signs and symptoms
- Postural tremor
- Kinetic tremor
- Intranuclear inclusion bodies
- Head tremor
- Vocal tremor
- Cerebellar atrophy
- Leukodystrophy