autosomal dominant cerebellar ataxia
A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.
MONDO:0015368
obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015547
hereditary dementia
is_a
MONDO:0100310
hereditary cerebellar ataxia
is_a
ADCA
exact
Autosomal Dominant Hereditary Ataxia
exact
Pierre Marie cerebellar ataxia (formerly)
related
SCA
broad
autosomal dominant spinocerebellar ataxia
exact
cerebellar ataxia, autosomal dominant
exact
spinocerebellar ataxia
broad
SPBC646.10c SPAC227.07c SPAC1687.22c SPBC543.09 SPCP31B10.07 SPAC513.01c SPAC26H5.05 SPCC970.07c SPBC21B10.03c SPAC1639.01c SPAC1B2.03c SPCC584.14 SPCC126.04c SPAC29E6.08