Huntington disease-like 1

A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(5.0%)		 17405764
 Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3.
Shimohata T, Hara K, Sanpei K, Nunomura J, Maeda T, Kawachi I, Kanazawa M, Kasuga K, Miyashita A, Kuwano R, Hirota K, Tsuji S, Onodera O, Nishizawa M, Honma Y.
Brain. 2007;130(Pt 9):2302-9.
Dementia
ATN1 ATXN7 JPH3 NKX2-1
Aged, 80 and over Chorea Chromosome Mapping Chromosomes, Human, Pair 8 Females Homo sapiens Lod Score Magnetic Resonance Imaging Male Middle Aged X-Ray Computed Tomography
        

Phenotype(s) retrieved from Orphanet

    Total: 44

HPO ID Term Frequency
HP:0002072 Chorea Very frequent (99-80%)
HP:0000708 Behavioral abnormality Frequent (79-30%)
HP:0000716 Depressivity Frequent (79-30%)
HP:0000726 Dementia Frequent (79-30%)
HP:0000746 Delusions Frequent (79-30%)
HP:0001260 Dysarthria Frequent (79-30%)
HP:0001288 Gait disturbance Frequent (79-30%)
HP:0002066 Gait ataxia Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0004305 Involuntary movements Frequent (79-30%)
HP:0100543 Cognitive impairment Frequent (79-30%)
HP:0000298 Mask-like facies Occasional (29-5%)
HP:0000496 Abnormality of eye movement Occasional (29-5%)
HP:0000514 Slow saccadic eye movements Occasional (29-5%)
HP:0000570 Abnormal saccadic eye movements Occasional (29-5%)
HP:0000617 Abnormality of ocular smooth pursuit Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0000711 Restlessness Occasional (29-5%)
HP:0000750 Delayed speech and language development Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001272 Cerebellar atrophy Occasional (29-5%)
HP:0001290 Generalized hypotonia Occasional (29-5%)
HP:0001310 Dysmetria Occasional (29-5%)
HP:0001350 Slurred speech Occasional (29-5%)
HP:0001824 Weight loss Occasional (29-5%)
HP:0002067 Bradykinesia Occasional (29-5%)
HP:0002120 Cerebral cortical atrophy Occasional (29-5%)
HP:0002134 Abnormality of the basal ganglia Occasional (29-5%)
HP:0002171 Gliosis Occasional (29-5%)
HP:0002311 Incoordination Occasional (29-5%)
HP:0002312 Clumsiness Occasional (29-5%)
HP:0002353 EEG abnormality Occasional (29-5%)
HP:0002354 Memory impairment Occasional (29-5%)
HP:0002359 Frequent falls Occasional (29-5%)
HP:0002375 Hypokinesia Occasional (29-5%)
HP:0002457 Abnormal head movements Occasional (29-5%)
HP:0002533 Abnormal posturing Occasional (29-5%)
HP:0003043 Abnormality of the shoulder Occasional (29-5%)
HP:0006801 Hyperactive deep tendon reflexes Occasional (29-5%)
HP:0006961 Jerky head movements Occasional (29-5%)
HP:0007010 Poor fine motor coordination Occasional (29-5%)
HP:0008003 Jerky ocular pursuit movements Occasional (29-5%)
HP:0011446 Abnormality of higher mental function Occasional (29-5%)
HP:0040201 Simultanapraxia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PRNP prion protein 5621