Autosomal dominant striatal neurodegeneration

General Information (adopted from Orphanet):

Synonyms, Signs: ADSD
Number of Symptoms 22
OrphanetNr: 228169
OMIM Id: 609161
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 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:0000163) Abnormality of the oral cavity Frequent [Orphanet] 37 / 7739
2
(HPO:0002063) Rigidity 92 / 7739
3
(HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
4
(HPO:0002375) Hypokinesia 25 / 7739
5
(HPO:0002395) Lower limb hyperreflexia 26 / 7739
6
(HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
7
(HPO:0002075) Dysdiadochokinesis 40 / 7739
8
(HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
9
(HPO:0001260) Dysarthria 329 / 7739
10
(HPO:0002067) Bradykinesia 62 / 7739
11
(HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
12
(HPO:0003011) Abnormality of the musculature Very frequent [Orphanet] 47 / 7739
13
(HPO:0040140) Degeneration of the striatum 1 / 7739
14
(HPO:0007039) Symmetric lesions of the basal ganglia 2 / 7739
15
(OMIM) Lesions show signal increase on T2- and signal decrease on T1-weighted images 2 / 7739
16
(OMIM) Basal ganglia lesions may be present before onset of clinical symptoms 1 / 7739
17
(OMIM) MRI shows symmetric lesions of the basal ganglia (particularly caudate and putamen) 1 / 7739
18
(OMIM) No tremor 1 / 7739
19
(OMIM) No response to L-Dopa treatment 1 / 7739
20
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
21
(HPO:0003677) Slow progression 134 / 7739
22
(OMIM) Dysarthria, slowly progressive 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kuhlenbaumer et al. (2004) reported a large German family in which 8 members spanning 3 generations had basal ganglia disease inherited in an autosomal dominant pattern. Family history suggested 5 affected members in previous generations. The proband presented ...
Molecular genetics OMIM In affected members of the family with adult-onset autosomal dominant striatal degeneration reported by Kuhlenbaumer et al. (2004), Appenzeller et al. (2010) identified a heterozygous mutation in the PDE8B gene (603390.0002), resulting in a loss of protein function. ...