Hereditary sensory and autonomic neuropathy type 3 in non-Jewish child

Silveira, Ana Ligia da Silva; Binkowski, Raquel Trautenmüller Kerber; Rich, Bruna Feltrin; Benetti, Marilian Bastiani; Almeida, A. Bugalho de

doi:10.1590/s0004-282x2012001100015

Cited by 3 publications

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“…FD is an autosomal recessive congenital sensory and autonomic neuropathy that affects almost exclusively individuals of Ashkenazi, or Eastern European, Jewish extraction, although non-Jewish cases have also been reported (Guzzetta et al , 1986; Leyne et al , 2003; Silveira et al , 2012; MIM 223900). FD was first described in 1949 (Riley et al , 1949), based on reports of five children, all Jewish, who presented with diminished production of tears, excessive sweating and salivation, red blotching of the skin, reduced deep tendon reflexes, and marked arterial hypertension.…”

Section: Introductionmentioning

confidence: 99%

Familial Dysautonomia: Mechanisms and Models

Dietrich

Dragatsis

2016

Genet. Mol. Biol.

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Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions. Familial Dysautonomia (FD), also known as HSAN III, is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population. The major features of the disease are already present at birth and are attributed to abnormal development and progressive degeneration of the sensory and autonomic nervous systems. Despite clinical interventions, the disease is inevitably fatal. FD is caused by a point mutation in intron 20 of the IKBKAP gene that results in severe reduction in expression of IKAP, its encoded protein. In vitro and in vivo studies have shown that IKAP is involved in multiple intracellular processes, and suggest that failed target innervation and/or impaired neurotrophic retrograde transport are the primary causes of neuronal cell death in FD. However, FD is far more complex, and appears to affect several other organs and systems in addition to the peripheral nervous system. With the recent generation of mouse models that recapitulate the molecular and pathological features of the disease, it is now possible to further investigate the mechanisms underlying different aspects of the disorder, and to test novel therapeutic strategies.

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Section: Introductionmentioning

confidence: 99%

Familial Dysautonomia: Mechanisms and Models

Dietrich

Dragatsis

2016

Genet. Mol. Biol.

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Induced pluripotent stem cells for studying genetic autonomic disorders

Ulrichs

Zeltner

2022

iPSCs - State of the Science

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Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent

Ramirez-Estudillo¹,

González-Saldívar²,

Espinosa-Soto³

et al. 2017

JCDR

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Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima and usually feeding difficulties. It is present almost exclusively in Ashkenazi Jewish individuals and has a poor prognosis. We describe an unusual case of Riley-Day syndrome with pseudostrabismus in a non-Ashkenazi Jewish patient. A one-year-old female infant was referred for evaluation of strabismus, absence of fungiform papillae, feeding difficulty, gastroesophageal reflux and episodes of self-mutilation. Deep tendon reflexes were depressed, the blinking rate and corneal reflex were diminished as well and corneas were opaque due to corneal erosions. Reduced lacrimal production was confirmed by the Schirmer test. Eye drops were recommended every 2-3 hours for corneal erosion and the patient was referred to the genetics department for further diagnostic confirmation.

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Hereditary sensory and autonomic neuropathy type 3 in non-Jewish child

Cited by 3 publications

References 4 publications

Familial Dysautonomia: Mechanisms and Models

Familial Dysautonomia: Mechanisms and Models

Induced pluripotent stem cells for studying genetic autonomic disorders

Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent

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