MRI of Wolfram syndrome (DIDMOAD)

“…Because diabetic retinopathy is rare among Wolfram syndrome patients with poor visual acuity, neurological complications have been implicated (Seynaeve et al, 1994;Barrett et al, 1997). An MRI study of Wolfram syndrome patients has revealed atrophy of the optic nerves, chiasm, and tracts (Galluzzi et al, 1999). In addition, Wfs1 expression has been detected in retinal ganglion cells and optic nerve glia of cynomolgus monkey (Macaca fascicularis), suggesting a similar expression profile in humans (Yamamoto et al, 2006).…”

Section: Relationship Of Wfs1 Expression To Wolfram Syndromementioning

confidence: 97%

Distribution of Wfs1 protein in the central nervous system of the mouse and its relation to clinical symptoms of the Wolfram syndrome

Luuk

Kõks

Plaas

et al. 2008

J of Comparative Neurology

111

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Mutations in the coding region of the WFS1 gene cause Wolfram syndrome, a rare multisystem neurodegenerative disorder of autosomal recessive inheritance. Patients with Wolfram syndrome display considerable clinical pleiomorphism, and symptoms such as neurological complications and psychiatric disorders are common. In the present study we have characterized Wfs1 expression pattern in the mouse central nervous system by using a combination of immunohistochemistry on wild-type mice and X-Gal staining of Wfs1 knockout mice with targeted insertion of the lacZ reporter. We identified a robust enrichment of Wfs1 protein in the central extended amygdala and ventral striatum. Prominent Wfs1 expression was seen in the hippocampal CA1 region, parasubiculum, superficial part of the second and third layers of the prefrontal cortex and proisocortical areas, hypothalamic magnocellular neurosecretory system, and central auditory pathway. Wfs1 expression was also detected in numerous brainstem nuclei and in laminae VIII and IX of the spinal cord. Wfs1-positive nerve fibers were found in the medial forebrain bundle, reticular part of the substantia nigra, globus pallidus, posterior caudate putamen, lateral lemniscus, alveus, fimbria, dorsal hippocampal commissure, subiculum, and to a lesser extent in the central sublenticular extended amygdala, compact part of substantia nigra, and ventral tegmental area. The neuroanatomical findings suggest that the lack of Wfs1 protein function can be related to several neurological and psychiatric symptoms found in Wolfram syndrome. Enrichment of Wfs1 protein in the central extended amygdala suggests a role in the modulation of anxiety and fear.

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“…may also occur. It is, generally, a diffusion of the degenerative process which affects at first some nervous regions: optical nerve, posterior lobus of hypophysis, hearing ways, provoking visual deficit, diabetes insipidus, hearing loss and subsequently it spreads affecting also other structures (the brain stem, the cerebellum and the cerebral cortex) as demonstrated by MR study [25].…”

Section: Considerationsmentioning

confidence: 98%

Wolfram syndrome

Megighian¹,

Savastano²

2004

International Journal of Pediatric Otorhinolaryngology

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The Wolfram syndrome is a rare dysmorphogenetic disease of autosomic recessive hereditary nature. The pathogenesis of the disease is still not well known. It is characterised by the presence of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Other anomalies, such as renal outflow tracts and multiple neurological disorders may develop later. In our case report the diabetes mellitus appeared at the age of 4; the hearing loss and renal disturbances at the age of 11; the optic atrophy at the age of 16. No signs of ataxia, diabetes insipidus and neurologic anomalies were found. The diagnosis of Wolfram syndrome is not always easy in the first stages of the disease. The suspect may come from the presence of a juvenile diabetes mellitus asssociated with optic atrophy. For the diagnosis a valid clue can be given from the results of some clinical tests such as the positivity of the visual evoked potentials and the retinogram reliefs and the exclusion of the autoimmune origin of the diabetes mellitus. Other signs such as the progressive sensorineural hearing loss, the presence of nystagmus and of urodynamic disturbances and renal complications makes the diagnosis of this syndrome easier.

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MRI of Wolfram syndrome (DIDMOAD)

Cited by 47 publications

References 0 publications

Wolfram Syndrome: Case Report and Review of the Literature

Wolfram Syndrome: Case Report and Review of the Literature

Distribution of Wfs1 protein in the central nervous system of the mouse and its relation to clinical symptoms of the Wolfram syndrome

Wolfram syndrome

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