Parkinsonim due to ATP13A2 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: CLN12, INCLUDED
PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE
KRPPD CEROID LIPOFUSCINOSIS, NEURONAL, 12, INCLUDED
PALLIDOPYRAMIDAL DEGENERATION WITH SUPRANUCLEAR UPGAZE PARESIS AND DEMENTIA
KRS
PARK9
CLN12 disease
Number of Symptoms 36
OrphanetNr: 314632
OMIM Id: 606693
ICD-10: E75.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Neuronal ceroid lipofuscinosis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Rare parkinsonian syndrome due to genetic neurodegenerative disease
 -Rare genetic disease
Rare parkinsonian syndrome due to neurodegenerative disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0004409) Hyposmia 16 / 7739
2
(HPO:0000473) Torticollis 42 / 7739
3
(HPO:0000298) Mask-like facies 44 / 7739
4
(HPO:0000458) Anosmia 49 / 7739
5
(HPO:0000605) Supranuclear gaze palsy 16 / 7739
6
(HPO:0000514) Slow saccadic eye movements 21 / 7739
7
(HPO:0002172) Postural instability 22 / 7739
8
(HPO:0001347) Hyperreflexia 363 / 7739
9
(HPO:0002063) Rigidity 92 / 7739
10
(HPO:0001257) Spasticity 251 / 7739
11
(HPO:0000738) Hallucinations 60 / 7739
12
(HPO:0000726) Dementia 131 / 7739
13
(HPO:0003487) Babinski sign 179 / 7739
14
(HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
15
(HPO:0001300) Parkinsonism 75 / 7739
16
(HPO:0001336) Myoclonus 115 / 7739
17
(HPO:0002425) Anarthria 5 / 7739
18
(HPO:0002304) Akinesia 18 / 7739
19
(HPO:0001268) Mental deterioration 88 / 7739
20
(HPO:0001250) Seizures 1245 / 7739
21
(HPO:0002936) Distal sensory impairment 96 / 7739
22
(HPO:0000725) Psychotic episodes 6 / 7739
23
(HPO:0001332) Dystonia 197 / 7739
24
(HPO:0007256) Abnormal pyramidal signs 116 / 7739
25
(HPO:0002375) Hypokinesia 25 / 7739
26
(HPO:0000718) Aggressive behavior 109 / 7739
27
(HPO:0001327) Photomyoclonic seizures 125 / 7739
28
(OMIM) Cytoplasmic lamellar inclusions consistent with neuronal ceroid lipofuscinosis (in some patients) 2 / 7739
29
(OMIM) Mild paraparesis 2 / 7739
30
(OMIM) Oculogyric dystonic spasms 2 / 7739
31
(OMIM) Atrophy of pyramids 2 / 7739
32
(OMIM) Festinating (Parkinsonian) gait 2 / 7739
33
(OMIM) Facial-faucial-finger mini-myoclonus (FFF) 2 / 7739
34
(OMIM) Flattening of the caudate 2 / 7739
35
(OMIM) Generalized cerebral, cerebellar, and brainstem atrophy, progressive 2 / 7739
36
(OMIM) Brain iron accumulation in the basal ganglia (in some patients) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis ...
Clinical Description OMIM Najim Al-Din et al. (1994) reported 5 offspring of a consanguineous Jordanian couple with clinical features similar to those of idiopathic Parkinson disease and pallidopyramidal syndrome (PARK15; 260300). These included a mask-like face, rigidity, and bradykinesia. Rapidly progressive ...
Molecular genetics OMIM By mutation screening or linkage analysis, Ramirez et al. (2006) excluded known autosomal recessive Parkinson disease genes and loci from involvement in the phenotype in a large nonconsanguineous Chilean family. They found linkage to a 23-cM region bordered ...