Ignet

Gene Information

Gene symbol: CLA3

Gene name: cerebellar ataxia 3 (cerebellar parenchyma disorder 1)

HGNC ID: 2004

Related Genes

#	Gene Symbol	Number of hits
1	AVP	1 hits
2	CP	1 hits
3	GAD1	1 hits
4	GLRA1	1 hits
5	IDDM2	1 hits
6	IGF1	1 hits
7	INS	1 hits
8	KSS	1 hits
9	MELAS	1 hits
10	TPP1	1 hits

Related Sentences

#	PMID	Sentence
1	1591027	We reported a 16-year-old boy suffering from dwarfism, diabetes insipidus and progressive cerebellar ataxia.
2	1591027	Pituitary hormones (GH and ACTH) sufficiently responded to the loading of hypothalamic hormones such as growth hormone releasing factor and corticotropin releasing factor, in spite of poor responses of GH under the insulin stimulation or sleep.
3	1628438	[Central diabetes insipidus complicated with upbeat nystagmus and cerebellar ataxia].
4	1628438	A 34-year-old male presented with central diabetes insipidus accompanied by upbeat nystagmus and cerebellar ataxia.
5	1628438	There have been occasional reports of diabetes insipidus complicated by cerebellar ataxia, but in no earlier reports has diabetes insipidus been concurrent with abnormal ocular movements such as upbeat nystagmus.
6	1628438	[Central diabetes insipidus complicated with upbeat nystagmus and cerebellar ataxia].
7	1628438	A 34-year-old male presented with central diabetes insipidus accompanied by upbeat nystagmus and cerebellar ataxia.
8	1628438	There have been occasional reports of diabetes insipidus complicated by cerebellar ataxia, but in no earlier reports has diabetes insipidus been concurrent with abnormal ocular movements such as upbeat nystagmus.
9	1628438	[Central diabetes insipidus complicated with upbeat nystagmus and cerebellar ataxia].
10	1628438	A 34-year-old male presented with central diabetes insipidus accompanied by upbeat nystagmus and cerebellar ataxia.
11	1628438	There have been occasional reports of diabetes insipidus complicated by cerebellar ataxia, but in no earlier reports has diabetes insipidus been concurrent with abnormal ocular movements such as upbeat nystagmus.
12	2775003	A distinctive syndrome of diabetes insipidus developed in four boys in early childhood and progressive spastic cerebellar ataxia developed in adolescence.
13	2775003	In patient 1, 12 years after the onset of diabetes insipidus and 4 years after the onset of spastic cerebellar ataxia, bone lesions that proved to be histiocytosis were detected.
14	2775003	We conclude that there is a distinctive syndrome characterized by early diabetes insipidus with subsequent progressive spastic cerebellar ataxia.
15	2775003	While histiocytosis may not account for this complex syndrome in all cases, diabetes insipidus followed by progressive spastic cerebellar ataxia merits intensive evaluation.
16	2775003	A distinctive syndrome of diabetes insipidus developed in four boys in early childhood and progressive spastic cerebellar ataxia developed in adolescence.
17	2775003	In patient 1, 12 years after the onset of diabetes insipidus and 4 years after the onset of spastic cerebellar ataxia, bone lesions that proved to be histiocytosis were detected.
18	2775003	We conclude that there is a distinctive syndrome characterized by early diabetes insipidus with subsequent progressive spastic cerebellar ataxia.
19	2775003	While histiocytosis may not account for this complex syndrome in all cases, diabetes insipidus followed by progressive spastic cerebellar ataxia merits intensive evaluation.
20	2775003	A distinctive syndrome of diabetes insipidus developed in four boys in early childhood and progressive spastic cerebellar ataxia developed in adolescence.
21	2775003	In patient 1, 12 years after the onset of diabetes insipidus and 4 years after the onset of spastic cerebellar ataxia, bone lesions that proved to be histiocytosis were detected.
22	2775003	We conclude that there is a distinctive syndrome characterized by early diabetes insipidus with subsequent progressive spastic cerebellar ataxia.
23	2775003	While histiocytosis may not account for this complex syndrome in all cases, diabetes insipidus followed by progressive spastic cerebellar ataxia merits intensive evaluation.
24	2775003	A distinctive syndrome of diabetes insipidus developed in four boys in early childhood and progressive spastic cerebellar ataxia developed in adolescence.
25	2775003	In patient 1, 12 years after the onset of diabetes insipidus and 4 years after the onset of spastic cerebellar ataxia, bone lesions that proved to be histiocytosis were detected.
26	2775003	We conclude that there is a distinctive syndrome characterized by early diabetes insipidus with subsequent progressive spastic cerebellar ataxia.
27	2775003	While histiocytosis may not account for this complex syndrome in all cases, diabetes insipidus followed by progressive spastic cerebellar ataxia merits intensive evaluation.
28	3200306	Ataxia-telangiectasia (AT) is a human autosomal recessive disorder of childhood characterized by: (1) progressive cerebellar ataxia with degeneration of Purkinje cells; (2) hypersensitivity of fibroblasts and lymphocytes to ionizing radiation; (3) a 61-fold and 184-fold increased cancer incidence in white and black patients, respectively; (4) non-random chromosomal rearrangements in lymphocytes; (5) thymic hypoplasia with cellular and humoral (IgA and IgG2) immunodeficiencies; (6) elevated serum level of alphafetoprotein; (7) premature ageing; and (8) endocrine disorders, such as insulin-resistant diabetes mellitus.
29	3221226	Familial cerebellar ataxia and diabetes insipidus.
30	3221226	Two sisters are reported who both developed partial cranial diabetes insipidus in their 4th decade, followed by progressive cerebellar ataxia.
31	3221226	This appears to be the first report of cerebellar ataxia and diabetes insipidus occurring together as a genetic entity.
32	3221226	Familial cerebellar ataxia and diabetes insipidus.
33	3221226	Two sisters are reported who both developed partial cranial diabetes insipidus in their 4th decade, followed by progressive cerebellar ataxia.
34	3221226	This appears to be the first report of cerebellar ataxia and diabetes insipidus occurring together as a genetic entity.
35	3221226	Familial cerebellar ataxia and diabetes insipidus.
36	3221226	Two sisters are reported who both developed partial cranial diabetes insipidus in their 4th decade, followed by progressive cerebellar ataxia.
37	3221226	This appears to be the first report of cerebellar ataxia and diabetes insipidus occurring together as a genetic entity.
38	7490992	Wolfram syndrome is the association of diabetes mellitus and optic atrophy, and is sometimes called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness).
39	7490992	Cranial diabetes insipidus occurred in 33 patients (73%) with sensorineural deafness (28, 62%) in the second decade; renal-tract abnormalities (26, 58%) presented in the third decade followed by neurological complications (cerebellar ataxia, myoclonus [28, 62%]) in the fourth decade.
40	7539672	We identified a mutation in the ceruloplasmin (Cp) gene in a Japanese family with aceruloplasminemia, some of whose members showed extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus.
41	7781224	Clinically, they showed cerebellar ataxia as the initial symptom in the late infantile period and subsequently showed choreoathetosis and ocular motor apraxia at the age of approximately fifteen years.
42	8215202	Foetal neural grafting has also been performed for Huntington's disease, diabetes insipidus, and hereditary cerebellar ataxia.
43	8403688	Although the proband clinically exhibited MELAS-like symptoms such as sudden-onset cerebellar ataxia and weakness of the proximal portion of the limbs in addition to deafness and diabetes mellitus, the other three members of the family had only deafness and diabetes mellitus and no neurological manifestations.
44	8909383	The oxidative phosphorylation diseases are a group of such disorders characterised by a complex phenotype; the Kearns-Sayre syndrome, for example, can include cardiac abnormalities, diabetes mellitus, cerebellar ataxia, and deafness.
45	9163763	[A 29-year-old man with diabetes insipidus and cerebellar ataxia and development of spinal cord swelling 15 years after the onset].
46	9163763	We report a 29-year-old man with diabetes insipidus and cerebellar ataxia who developed spinal cord swelling 15 years after the onset.
47	9163763	[A 29-year-old man with diabetes insipidus and cerebellar ataxia and development of spinal cord swelling 15 years after the onset].
48	9163763	We report a 29-year-old man with diabetes insipidus and cerebellar ataxia who developed spinal cord swelling 15 years after the onset.
49	9339684	Autoantibodies to glutamic acid decarboxylase in three patients with cerebellar ataxia, late-onset insulin-dependent diabetes mellitus, and polyendocrine autoimmunity.
50	10078741	Degenerative cerebellar ataxia with autoantibodies against glutamic acid decarboxylase (GAD) is a rare disorder and may represent a subset of ataxias previously classified as idiopathic.
51	10078741	The authors report a patient with progressive cerebellar ataxia, insulin-dependent diabetes mellitus, and GAD antibodies who responded to i.v. immunoglobulins.
52	10078741	Degenerative cerebellar ataxia with autoantibodies against glutamic acid decarboxylase (GAD) is a rare disorder and may represent a subset of ataxias previously classified as idiopathic.
53	10078741	The authors report a patient with progressive cerebellar ataxia, insulin-dependent diabetes mellitus, and GAD antibodies who responded to i.v. immunoglobulins.
54	10215312	[A 29-year-old man with diabetes insipidus and cerebellar ataxia and development of spinal cord swelling 15 years after the onset].
55	11114263	Neurodegeneration is associated to changes in serum insulin-like growth factors.
56	11114263	Serum levels of insulin and insulin-like growth factors and their binding proteins (IGFs and IGFBPs, respectively) are changed in human neurodegenerative diseases of very different etiology, such as Alzheimer's disease, amyotrophic lateral sclerosis, or cerebellar ataxia.
57	11114263	Both types of patients have increased serum IGF-I and IGFBP-2 levels, and decreased serum IGFBP-1 levels, while only AT patients have high serum insulin levels.
58	11114263	In these three models, serum insulin levels are significantly decreased, serum IGF-I and IGFBP-1, -2, and -3 are decreased in diabetic and neurotoxin-injected rats, while serum IGFBP-1 is increased in hereditary ataxic rats.
59	11181864	Autoantibodies against glutamic acid decarboxylase (GAD) have been found in stiff-man syndrome, insulin dependent diabetes mellitus, and progressive cerebellar ataxia.
60	11181864	A patient with progressive cerebellar ataxia is described who was positive for GAD autoantibodies, and had Sjögren's syndrome.
61	11181864	Autoantibodies against glutamic acid decarboxylase (GAD) have been found in stiff-man syndrome, insulin dependent diabetes mellitus, and progressive cerebellar ataxia.
62	11181864	A patient with progressive cerebellar ataxia is described who was positive for GAD autoantibodies, and had Sjögren's syndrome.
63	11456277	Physical examination on admission revealed coordinate disturbance due to cerebellar ataxia, and the laboratory examination showed marked hyperglycemia with ketosis and impaired insulin secretion.
64	11579968	Stiff-person syndrome associated with cerebellar ataxia and high glutamic acid decarboxylase antibody titer.
65	11579968	Glutamic acid decarboxylase (GAD) is the main target of humoral autoimmunity in patients with insulin-dependent diabetes mellitus (IDDM) and stiff-person syndrome.
66	11579968	We reviewed the case of a 46-year-old woman who had cerebellar ataxia before getting stiff-person syndrome and IDDM with high anti-GAD autoantibody titers.
67	11579968	This was a rare case in which there were both the clinical symptoms of stiff-person syndrome and cerebellar ataxia.
68	11579968	Stiff-person syndrome associated with cerebellar ataxia and high glutamic acid decarboxylase antibody titer.
69	11579968	Glutamic acid decarboxylase (GAD) is the main target of humoral autoimmunity in patients with insulin-dependent diabetes mellitus (IDDM) and stiff-person syndrome.
70	11579968	We reviewed the case of a 46-year-old woman who had cerebellar ataxia before getting stiff-person syndrome and IDDM with high anti-GAD autoantibody titers.
71	11579968	This was a rare case in which there were both the clinical symptoms of stiff-person syndrome and cerebellar ataxia.
72	11579968	Stiff-person syndrome associated with cerebellar ataxia and high glutamic acid decarboxylase antibody titer.
73	11579968	Glutamic acid decarboxylase (GAD) is the main target of humoral autoimmunity in patients with insulin-dependent diabetes mellitus (IDDM) and stiff-person syndrome.
74	11579968	We reviewed the case of a 46-year-old woman who had cerebellar ataxia before getting stiff-person syndrome and IDDM with high anti-GAD autoantibody titers.
75	11579968	This was a rare case in which there were both the clinical symptoms of stiff-person syndrome and cerebellar ataxia.
76	15031771	We report a 27-year-old woman with a form of mitochondrial myopathy including chronic progressive external opthalmoplegia, retinal pigmentary dystrophy, cerebellar ataxia, and cardiac conduction block (Kearns-Sayre syndrome).
77	15596740	Degenerative diseases of the CNS, such as stiff-person syndrome (SPS), progressive cerebellar ataxia, and Rasmussen encephalitis, have been characterized by the presence of autoantibodies.
78	15804247	Antibodies to glutamic acid decarboxylase (GADAb) are found in Stiff-Person syndrome, type 1 diabetes, cerebellar ataxia and other neurological disorders (such as epilepsy and myoclonus) involving the GABAergic ways.
79	15826997	Autoantibodies directed against GAD (antiGAD-Ab) have been described in patients with insulin-dependent diabetes mellitus, stiff-man syndrome, and in a few patients with progressive cerebellar ataxia.
80	17119008	Anti-glutamic acid decarboxylase antibody is associated with the development of progressive cerebellar ataxia and slowly progressive insulin-dependent diabetes mellitus.
81	17119008	Previously, the neurophysiological characteristics of IgG in the cerebrospinal fluid of a patient with anti-glutamic acid decarboxylase antibody-associated progressive cerebellar ataxia and slowly progressive insulin-dependent diabetes mellitus were reported.
82	17119008	Anti-glutamic acid decarboxylase antibody is associated with the development of progressive cerebellar ataxia and slowly progressive insulin-dependent diabetes mellitus.
83	17119008	Previously, the neurophysiological characteristics of IgG in the cerebrospinal fluid of a patient with anti-glutamic acid decarboxylase antibody-associated progressive cerebellar ataxia and slowly progressive insulin-dependent diabetes mellitus were reported.
84	19828214	Autoantibodies to glutamic acid decarboxylase (GAD), originally identified in the stiff-person syndrome, are also associated with rare cases of therapy-resistant epilepsy and sporadic cerebellar ataxia.
85	19966979	A rare syndrome of central diabetes insipidus with spastic cerebellar ataxia.
86	19966979	The syndrome of central diabetes insipidus (cDI) and spastic cerebellar ataxia is rare with only a few reports in the literature.
87	19966979	We report the case of a 21-year-old patient who was diagnosed to have central diabetes insipidus at the age of 7 years and presented to us at the age of 21 years with progressive spastic cerebellar ataxia that evolved over four years.
88	19966979	A rare syndrome of central diabetes insipidus with spastic cerebellar ataxia.
89	19966979	The syndrome of central diabetes insipidus (cDI) and spastic cerebellar ataxia is rare with only a few reports in the literature.
90	19966979	We report the case of a 21-year-old patient who was diagnosed to have central diabetes insipidus at the age of 7 years and presented to us at the age of 21 years with progressive spastic cerebellar ataxia that evolved over four years.
91	19966979	A rare syndrome of central diabetes insipidus with spastic cerebellar ataxia.
92	19966979	The syndrome of central diabetes insipidus (cDI) and spastic cerebellar ataxia is rare with only a few reports in the literature.
93	19966979	We report the case of a 21-year-old patient who was diagnosed to have central diabetes insipidus at the age of 7 years and presented to us at the age of 21 years with progressive spastic cerebellar ataxia that evolved over four years.
94	22990718	Anti-GAD positive stiff-person syndrome and cerebellar ataxia: two treatable conditions that clinicians should be aware of.