Fragile X-associated tremor/ataxia syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: FXTAS
FXTAS syndrome
Number of Symptoms 75
OrphanetNr: 93256
OMIM Id: 300623
ICD-10: G11.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic tremor disorder
 -Rare genetic disease
Rare tremor disorder
 -Rare neurologic disease
X-linked cerebellar ataxia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100639) Erectile abnormalities Frequent [Orphanet] 15 / 7739
2
 (HPO:0008209) Premature ovarian failure 28 / 7739
3
 (HPO:0000802) Impotence 20 / 7739
4
 (HPO:0002839) Urinary bladder sphincter dysfunction Frequent [Orphanet] 34 / 7739
5
 (HPO:0000020) Urinary incontinence 75 / 7739
6
 (HPO:0011037) Decreased urine output Frequent [Orphanet] 47 / 7739
7
 (HPO:0000298) Mask-like facies 44 / 7739
8
 (HPO:0000639) Nystagmus 555 / 7739
9
 (HPO:0001152) Saccadic smooth pursuit 6 / 7739
10
 (HPO:0000365) Hearing impairment 539 / 7739
11
 (HPO:0002067) Bradykinesia 62 / 7739
12
 (HPO:0008770) Obsessive-compulsive trait 6 / 7739
13
 (HPO:0001260) Dysarthria 329 / 7739
14
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
15
 (HPO:0002345) Action tremor 11 / 7739
16
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
17
 (HPO:0001268) Mental deterioration 88 / 7739
18
 (HPO:0002354) Memory impairment Very frequent [Orphanet] 63 / 7739
19
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
20
 (HPO:0000716) Depression 99 / 7739
21
 (HPO:0001310) Dysmetria 76 / 7739
22
 (HPO:0001265) Hyporeflexia 208 / 7739
23
 (HPO:0002080) Intention tremor 44 / 7739
24
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
25
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
26
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
27
 (HPO:0000726) Dementia 131 / 7739
28
 (HPO:0000722) Obsessive-compulsive behavior Frequent [Orphanet] 35 / 7739
29
 (HPO:0000734) Disinhibition 13 / 7739
30
 (HPO:0002270) Abnormality of the autonomic nervous system Frequent [Orphanet] 22 / 7739
31
 (HPO:0006886) Impaired distal vibration sensation 8 / 7739
32
 (HPO:0002322) Resting tremor 14 / 7739
33
 (HPO:0001300) Parkinsonism 75 / 7739
34
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
35
 (HPO:0002174) Postural tremor 22 / 7739
36
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
37
 (HPO:0007010) Poor fine motor coordination 4 / 7739
38
 (HPO:0000739) Anxiety 67 / 7739
39
 (HPO:0001337) Tremor Very frequent [Orphanet] 200 / 7739
40
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
41
 (HPO:0009830) Peripheral neuropathy Frequent [Orphanet] 206 / 7739
42
 (HPO:0000763) Sensory neuropathy Frequent [Orphanet] 78 / 7739
43
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
44
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
45
 (HPO:0002607) Bowel incontinence Occasional [Orphanet] 33 / 7739
46
 (HPO:0002615) Hypotension Occasional [Orphanet] 52 / 7739
47
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
48
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
49
 (HPO:0003326) Myalgia Occasional [Orphanet] 143 / 7739
50
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
51
 (OMIM) Impaired tandem gait 1 / 7739
52
 (OMIM) Neuropathology shows FMR1 mRNA-positive inclusions in neurons and astrocytes 1 / 7739
53
 (HPO:0001272) Cerebellar atrophy 197 / 7739
54
 (HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739
55
 (OMIM) Increased intracellular FMRP mRNA 1 / 7739
56
 (OMIM) Saccadic pursuit 7 / 7739
57
 (OMIM) Lower extremity paresthesias 1 / 7739
58
 (OMIM) Decreased distal vibratory sensation 1 / 7739
59
 (MedDRA:10021639) Incontinence 11 / 7739
60
 (OMIM) MRI shows generalized atrophy 1 / 7739
61
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
62
 (MedDRA:10026863) Masked facies 8 / 7739
63
 (HPO:0002363) Abnormality of brainstem morphology Occasional [Orphanet] 14 / 7739
64
 (MedDRA:10070246) Executive dysfunction 6 / 7739
65
 (OMIM) Impaired fine motor skills 2 / 7739
66
 (HPO:0002506) Diffuse cerebral atrophy 9 / 7739
67
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
68
 (OMIM) Loss of executive function 2 / 7739
69
 (OMIM) Decreased intracellular FMR protein 1 / 7739
70
 (MedDRA:10048439) Fibromyalgia 1 / 7739
71
 (OMIM) Lower extremity numbness 1 / 7739
72
 (OMIM) Illegible handwriting 1 / 7739
73
 (OMIM) Memory defects 1 / 7739
74
 (OMIM) Increased T2 signal intensities in the middle cerebellar peduncles 1 / 7739
75
 (HPO:0003581) Adult onset 117 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Jacquemont et al. (2007) provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder. Amiri et al. (2008) provided a review of FXTAS and noted ...
Clinical Description OMIM Hagerman et al. (2001) reported 5 men with a fragile X premutation, ranging from 78 to 98 repeats, who presented in the sixth decade with progressive intention tremor, parkinsonism, cognitive decline, generalized atrophy on MRI, and impotence. Two ...
Molecular genetics OMIM In 5 men with FXTAS, Hagerman et al. (2001) identified a premutation in the FMR1 gene, ranging from 78 to 98 repeats (309550.0004). Levels of FMR1 mRNA were 2 to 4 times higher than normal, which the authors ...
Population genetics OMIM Loesch et al. (2009) identified 4 carriers of FMR1 premutation alleles (56, 58, 83 and 87 CGGs, respectively) among 228 Australian males with idiopathic parkinsonism; no premutation alleles were found in 576 controls (p = 0.006). The frequency ...