Alström syndrome

Russell‐Eggitt, Isabelle; Clayton, Peter T.; Coffey, Rebecca; Kriss, A.; Taylor, David; Taylor, J F

doi:10.1016/s0161-6420(98)97033-6

Cited by 145 publications

(41 citation statements)

References 37 publications

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“…The clinical variability of retinal disease in such patients has already been pointed out for both Alström and Bardet-Biedl syndromes. 30,31 In the present study all four patients exhibited early onset retinal degeneration accompanied with congenital nystagmus and photophobia. Early presentation could argue in favour of Alström syndrome, where retinal damage is described to start classically before the age of 15 months (Fig.…”

Section: Discussionsupporting

confidence: 56%

Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing

Hellé¹,

Gyapay²,

Duchatelet³

et al. 2011

Ophthalmic Genetics

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Section: Discussionsupporting

confidence: 56%

Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing

Hellé¹,

Gyapay²,

Duchatelet³

et al. 2011

Ophthalmic Genetics

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“…Additionally, mouse strains with genetic lesions in ciliary proteins lead to cystic kidney disease [9,10]. Second, the spectrum of phenotypes seen in Alström patients is similar to Bardet-Biedl patients [11], suggesting that mutations in ALMS1 might cause disease through a similar mechanism to BBS mutations. It is now well documented that several of the 11 genes mutated in Bardet-Biedl syndrome (BBS) have roles in the function of primary cilia [12–19].…”

Section: Introductionmentioning

confidence: 99%

A Role for Alström Syndrome Protein, Alms1, in Kidney Ciliogenesis and Cellular Quiescence

Vega

Nelms³

et al. 2007

PLoS Genet

169

168

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Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alström syndrome. Alström syndrome is a rare disorder characterized by early obesity and sensory impairment, symptoms shared with other genetic diseases affecting proteins of the primary cilium. ALMS1 localizes to centrosomes and ciliary basal bodies, but truncation mutations in Alms1/ALMS1 do not preclude formation of cilia. Here, we show that in vitro knockdown of Alms1 in mice causes stunted cilia on kidney epithelial cells and prevents these cells from increasing calcium influx in response to mechanical stimuli. The stunted-cilium phenotype can be rescued with a 5′ fragment of the Alms1 cDNA, which resembles disease-associated alleles. In a mouse model of Alström syndrome, Alms1 protein can be stably expressed from the mutant allele and is required for cilia formation in primary cells. Aged mice developed specific loss of cilia from the kidney proximal tubules, which is associated with foci of apoptosis or proliferation. As renal failure is a common cause of mortality in Alström syndrome patients, we conclude that this disease should be considered as a further example of the class of renal ciliopathies: wild-type or mutant alleles of the Alström syndrome gene can support normal kidney ciliogenesis in vitro and in vivo, but mutant alleles are associated with age-dependent loss of kidney primary cilia.

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“…Investigators have reported normal insulinmediated RNA synthesis in the patients, suggesting a postreceptor defect in AS (2). Growth hormone deficiency has been reported in AS (5). It has been suggested that resistance to several polypeptite hormones including insuline, vasopressin, gonadotropins and growth hormone might be responsible for some aspects of the disease (2).…”

Section: Discussionmentioning

confidence: 99%

“…Vision usually is severely impaired in patients younger than one year of age, and the symptoms may be confused with those of Leber 's congenital amaurosis or achromatopsia. The patients with AS cited in the literature generally have a visual acuity of less than 6/60 by 10 years of age (5).…”

Section: Discussionmentioning

confidence: 99%

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Alström Syndrome Associated With Cerebral Involvement: An Unusual Presentation

et al. 2006

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Alström syndrome (AS) is a rare autosomal recessive disorder, characterized by retinal degeneration, progressive hearing impairment, truncal obesity and non-insulin dependent diabetes mellitus. A 6-year-old girl was admitted with aphasia, deafness, strabismus, abdominal distention, and weakness on the right body side. The physical and laboratory examination revealed psychomotor retardation, right hemiparesis, sensorioneural hearing loss, aphasia, eye and teeth abnormalities, hyperpigmentation, truncal obesity, hepatosplenomegaly, severe iron deficiency anemia, delayed bone age, and cerebral hemiatrophy. Based on these abnormal findings she was diagnosed as AS. According to our knowledge this is the first case of AS with cerebral involvement. This last finding may be a component of the syndrome.

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Alström syndrome

Cited by 145 publications

References 37 publications

Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing

Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing

A Role for Alström Syndrome Protein, Alms1, in Kidney Ciliogenesis and Cellular Quiescence

Alström Syndrome Associated With Cerebral Involvement: An Unusual Presentation

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