Dysequilibrium syndrome

PROM mutation in VLDLR gene

Also Known As:

Autosomal Recessive Cerebellar Ataxia with Mental Retardation; Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification; CAMRQ1; Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive; Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1; Cerebellar Hypoplasia and Mental Retardation with Or without Quadrupedal Locomotion; Cerebellar Hypoplasia, VLDLR-Associated; Cerebellar disorder, nonprogressive, with mental retardation; Cerebellar hypoplasia, VLDLR associated; Chmrq1; Des-Vldlr; Dysequilibrium Syndrome-Vldlr; Vldlr-Associated Cerebellar Hypoplasia; Vldlr-Ch; Vldlrch

Networked: 15 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Dysequilibrium syndrome
2.	Lissencephaly
3.	Spinocerebellar Ataxias (Spinocerebellar Ataxia)
4.	Stroke (Strokes)
5.	Mononeuropathies (Mononeuritis Multiplex)

Experts

1.	Al-Gazali, Lihadh: 2 articles (01/2018 - 12/2014)
2.	Ali, Bassam R: 2 articles (01/2018 - 12/2014)
3.	John, Anne: 2 articles (01/2018 - 12/2014)
4.	Kizhakkedath, Praseetha: 2 articles (01/2018 - 12/2014)
5.	Wali, Gautam: 1 article (05/2021)
6.	Wali, Gurusidheshwar M: 1 article (05/2021)
7.	Castagna, Claudia: 1 article (12/2019)
8.	Granato, Alberto: 1 article (12/2019)
9.	Lossi, Laura: 1 article (12/2019)
10.	Merighi, Adalberto: 1 article (12/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Dysequilibrium syndrome:

1.	VLDL LipoproteinsIBA 05/01/2021 - "Broadening the Clinical Spectrum of Very Low Density Lipoprotein Receptor Associated Dysequilibrium Syndrome." 12/01/2014 - "Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome." 09/01/2005 - "Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification." 12/01/2014 - "The subclass dysequilibrium syndrome type 1 (CAMRQ1) has been attributed to mutations in the VLDLR gene encoding the very low density lipoprotein receptor (VLDLR). " 01/01/2018 - "Previously we have reported that missense mutations in the Very Low Density Lipoprotein Receptor gene (VLDLR), causing Dysequilibrium syndrome (DES), disrupt ligand-binding, due to endoplasmic reticulum (ER) retention of the mutants. "
2.	SodiumIBA 01/01/1968 - "Role of blood urea and serum sodium concentrations in the pathogenesis of the dialysis dysequilibrium syndrome." 02/01/1998 - "Profiled haemodialysis (PHD), a new dialysis technique based on intradialytic modulation of the dialysate sodium concentration according to pre-elaborated individual profiles, has been set up to reduce intradialytic imbalances and the incidence of dysequilibrium syndrome and symptomatic hypotension. "
3.	Nonsense Codon (Nonsense Mutation)IBA 02/01/2008 - "Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome."
4.	Dialysis SolutionsIBA 02/01/1998 - "Profiled haemodialysis (PHD), a new dialysis technique based on intradialytic modulation of the dialysate sodium concentration according to pre-elaborated individual profiles, has been set up to reduce intradialytic imbalances and the incidence of dysequilibrium syndrome and symptomatic hypotension. "
5.	Urea (Carbamide)FDA LinkGeneric 01/01/1968 - "Role of blood urea and serum sodium concentrations in the pathogenesis of the dialysis dysequilibrium syndrome."
6.	Proteins (Proteins, Gene)FDA Link 12/01/2019 - "Besides LIS2 and ADLTE, RELN and/or other genes coding for the proteins of the Reln intracellular cascade have been associated substantially to other conditions such as spinocerebellar ataxia type 7 and 37, VLDLR-associated cerebellar hypoplasia, PAFAH1B1-associated lissencephaly, autism, and schizophrenia. "
7.	LigandsIBA 01/01/2018 - "Previously we have reported that missense mutations in the Very Low Density Lipoprotein Receptor gene (VLDLR), causing Dysequilibrium syndrome (DES), disrupt ligand-binding, due to endoplasmic reticulum (ER) retention of the mutants. "
8.	Isoleucine (L-Isoleucine)FDA Link 04/08/2014 - "In ATP8A2, the corresponding residue is an isoleucine, which recently was found mutated in patients with cerebellar ataxia, mental retardation, and dysequilibrium syndrome. "
9.	Dopamine beta-HydroxylaseIBA 04/01/1977 - "Low serum dopamine-beta-hydroxylase activity in the dysequilibrium syndrome."

Therapies and Procedures

1.	Renal Dialysis (Hemodialysis) 01/01/1970 - "The dysequilibrium syndrome in experimental hemodialysis." 01/01/1985 - "Dysequilibrium syndrome in hemodialysis is manifested by an acute brain swelling or by a formation at a later period of symmetrical ischemic-hemorrhagic necrosis in the thalamus and occipital lobes of the large hemispheres." 06/01/2008 - "Hemodialysis can directly or indirectly be associated with Wernicke's encephalopathy, dialytic dementia, dysequilibrium syndrome, cerebrovascular accidents, osmotic myelinolysis and mononeuropathy. "
2.	Examination Tables 10/01/1997 - "Her disturbance of the righting reflex in the tilt-table examination and the characteristic feature of her Romberg sign with directional preponderance also indicate that the bilateral loss of vestibular functions, i.e., vestibular ataxia caused her dysequilibrium syndrome. "
3.	Renal Replacement Therapy (Therapies, Renal Replacement) 03/01/1992 - "Dialysis dysequilibrium syndrome is a frequent complication of renal replacement therapy and seems to be related to changes in fluid balance. "