Spinal Cord Changes in Familial Dysautonomia

Mh, Fogelson; Lb, Rorke; Kaye, Robin

doi:10.1001/archneur.1967.00470250107012

Cited by 26 publications

(11 citation statements)

References 7 publications

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“…36 Indeed, genes involved in myelin formation were shown to be downregulated in FD but not control brains. 37 We showed here that Contactin, an adhesion molecule involved in Schwann cells myelination, is responsible for the enhanced adhesion of IKAP-DR SHSY5Y cells.…”

Section: Discussionmentioning

confidence: 99%

IKAP/hELP1 down-regulation in neuroblastoma cells causes enhanced cell adhesion mediated by contactin overexpression

Cohen-Kupiec

Weinstein

Kantor

et al. 2010

Cell Adhesion & Migration

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Section: Discussionmentioning

confidence: 99%

IKAP/hELP1 down-regulation in neuroblastoma cells causes enhanced cell adhesion mediated by contactin overexpression

Cohen-Kupiec

Weinstein

Kantor

et al. 2010

Cell Adhesion & Migration

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“…Other abnormalities, including thalamic degeneration and brain abscesses were observed in only two cases, but appeared to be secondary to episodes of hypoxia or inflammation (Solitare, 1991). However, subsequent investigations in an additional four FD patients (ranging from 10 months of age to 31 years of age) failed to detect any signs of demyelination or other signs of neuronal loss or atrophy in the CNS (Pearson et al , 1970; Yatsu and Zussman, 1964; Solitare and Cohen, 1965; Fogelson et al , 1967). …”

Section: Clinical Aspects and Pathological Findingsmentioning

confidence: 99%

“…Neuronal numbers in dorsal root ganglia (DRG) are already diminished in young FD patients, and can be as low as 10-20% the numbers of normal age-matched individuals (Pearson et al , 1978), although extensive variability has been observed between individuals (Fogelson et al , 1967; Solitare, 1991). More consistently, demyelination of the posterior columns (dorsal columns) of the spinal cord has been demonstrated in most post-mortem analyses (Fogelson et al , 1967; Pearson et al , 1978; Solitare, 1991).…”

Section: Clinical Aspects and Pathological Findingsmentioning

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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“…In a study on two siblings with FD, histological examination showed cytoplasmic vacuolization in myenteric neurons in one of the patients [19]. Two studies, each on a single patient, revealed no histological changes in myenteric neurons [20,22], and in another work on a single patient, some abnormalities in these neurons were noticed [21]. The most recent study dealing with the innervation of the gastrointestinal tract of FD patients was published back in 1985 [18].…”

Section: Discussionmentioning

confidence: 99%