| HPO |
HP:0002059 |
Cerebral atrophy |
"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum." [HPO:sdoelken] |
Atrophy may be progressive over time. |
HP:0007369 |
| HPO |
HP:0002060 |
Abnormal cerebral morphology |
"Any structural abnormality of the telencephalon, which is also known as the cerebrum." [HPO:probinson] |
— |
HP:0100547 |
| HPO |
HP:0002061 |
Lower limb spasticity |
"Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis" [HPO:probinson, UKT:rschuele] |
— |
HP:0001257 |
| HPO |
HP:0002062 |
Morphological abnormality of the pyramidal tract |
"Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts." [HPO:curators] |
The pyramidal tracts comprise both the corticospinal and corticobulbar tracts. |
HP:0002011 |
| HPO |
HP:0002063 |
Rigidity |
"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity." [HPO:probinson] |
Rigidity is often a manifestation of basal ganglia diseases. |
HP:0001276 |
| HPO |
HP:0002064 |
Spastic gait |
"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." [PMID:25649546] |
— |
HP:0001257, HP:0001288 |
| HPO |
HP:0002066 |
Gait ataxia |
"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall." [HPO:probinson, UKT:rschuele] |
— |
HP:0001251, HP:0001288 |
| HPO |
HP:0002067 |
Bradykinesia |
"Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:probinson] |
— |
HP:0002071 |
| HPO |
HP:0002068 |
Neuromuscular dysphagia |
— |
— |
HP:0002015 |
| HPO |
HP:0002069 |
Bilateral tonic-clonic seizure |
"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase." [HPO:pnrobinson, PMID:28276060] |
A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. |
HP:0001250 |
| HPO |
HP:0002070 |
Limb ataxia |
"A kind of ataxia that affects movements of the extremities." [HPO:probinson] |
Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways. |
HP:0001251 |
| HPO |
HP:0002071 |
Abnormality of extrapyramidal motor function |
"A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless)." [HPO:probinson] |
The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. |
HP:0011442 |
| HPO |
HP:0002072 |
Chorea |
"Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities." [HPO:probinson, PMID:20589866] |
— |
HP:0004305 |
| HPO |
HP:0002073 |
Progressive cerebellar ataxia |
— |
— |
HP:0001251 |
| HPO |
HP:0002074 |
Increased neuronal autofluorescent lipopigment |
"Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [HPO:probinson, PMID:11406682] |
— |
HP:0011813 |
| HPO |
HP:0002075 |
Dysdiadochokinesis |
"A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible." [HPO:probinson, HPO:zaferyueksel, UKB:tklockgether] |
Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion. |
HP:0001251 |
| HPO |
HP:0002076 |
Migraine |
"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms." [HPO:probinson, PMID:15304572] |
— |
HP:0002315 |
| HPO |
HP:0002077 |
Migraine with aura |
"A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." [HPO:probinson, PMID:15304572] |
— |
HP:0002076 |
| HPO |
HP:0002078 |
Truncal ataxia |
"Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting." [HPO:probinson, UKT:rschuele] |
Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support. |
HP:0001251 |
| HPO |
HP:0002079 |
Hypoplasia of the corpus callosum |
"Underdevelopment of the corpus callosum." [HPO:probinson, PMID:21263138] |
The corpus callosum appears thin in midline views of the brain in neuroradiological images. |
HP:0007370 |
| HPO |
HP:0002080 |
Intention tremor |
"A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger)." [HPO:probinson, PMID:16344298] |
— |
HP:0030186 |
| HPO |
HP:0002083 |
Migraine without aura |
"Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia." [HPO:probinson, PMID:15304572] |
The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (PMID:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis. |
HP:0002076 |
| HPO |
HP:0002084 |
Encephalocele |
"A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull." [HPO:probinson] |
A congenital gap in the skull that usually results in a protrusion of brain material. |
HP:0002011, HP:0011815 |
| HPO |
HP:0002085 |
Occipital encephalocele |
"A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp." [DDD:awilkie, HPO:probinson] |
— |
HP:0002084 |
| HPO |
HP:0002086 |
Abnormality of the respiratory system |
"An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles." [HPO:probinson] |
— |
HP:0000118 |