- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: IEA. Frequency: 4/15. (PMID:26456284)
- Diplopia (HP:0000651, a Human Phenotype Ontology term): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: PCS. (PMID:26456284)
- Babinski sign (HP:0003487, a Human Phenotype Ontology term): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: PCS. Frequency: 4/15. (OMIM:616795)
- Spastic ataxia (HP:0002497, a Human Phenotype Ontology term). Evidence: PCS. (PMID:26456284)
- Urinary urgency (HP:0000012, a Human Phenotype Ontology term): Urge incontinence is the strong, sudden need to urinate. Evidence: PCS. Frequency: 4/14. (PMID:26456284)
- Cerebellar atrophy (HP:0001272, a Human Phenotype Ontology term): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: PCS. (PMID:26456284)
- Dysarthria (HP:0001260, a Human Phenotype Ontology term): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: PCS. Frequency: 12/15. (PMID:26456284)
- Impaired vibration sensation at ankles (HP:0006938, a Human Phenotype Ontology term): A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. Evidence: PCS. Frequency: 6/13. (PMID:26456284)
- Urinary incontinence (HP:0000020, a Human Phenotype Ontology term): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: PCS. Frequency: 2/14. (PMID:26456284)
- Ataxia (HP:0001251, a Human Phenotype Ontology term): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: PCS. Frequency: 15/15. (PMID:26456284)
- Saccadic smooth pursuit interruptions (HP:0001152, a Human Phenotype Ontology term): An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. Evidence: PCS. Frequency: 6/15. (PMID:26456284)
- Spastic gait (HP:0002064, a Human Phenotype Ontology term): Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. Evidence: PCS. Frequency: 4/13. (PMID:26456284)
- Eyelid myokymia (HP:0031166, a Human Phenotype Ontology term): Involuntary, fine, continuous, undulating contractions of the eyelid. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:616795)
- Cognitive impairment (HP:0100543, a Human Phenotype Ontology term): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: PCS. (PMID:26456284)
- Depression (HP:0000716, a Human Phenotype Ontology term): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: PCS. Frequency: 13/25. (PMID:26456284)
- Loss of Purkinje cells in the cerebellar vermis (HP:0007001, a Human Phenotype Ontology term). Evidence: PCS. (PMID:26456284)
- Abnormal pyramidal sign (HP:0007256, a Human Phenotype Ontology term): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: PCS. (PMID:26456284)
- Unsteady gait (HP:0002317, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 19/25. (PMID:26456284)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:26456284)
- Horizontal nystagmus (HP:0000666, a Human Phenotype Ontology term): Nystagmus consisting of horizontal to-and-fro eye movements. Evidence: PCS. (PMID:26456284)
- Slowly progressive (HP:0003677, a Human Phenotype Ontology term): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: TAS. (OMIM:616795)
- Tremor (HP:0001337, a Human Phenotype Ontology term): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:616795)
- Hyperreflexia (HP:0001347, a Human Phenotype Ontology term): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:616795)
These phenotypes are associated with the disease spinocerebellar ataxia type 42 (OMIM:616795, an entry in Online Mendelian Inheritance in Man).