Calcification of the central nervous system in a new hereditary neurological syndrome

Reske‐Nielsen, Edith; Jensen, Peter K.A.; Hein-Sørensen, O; Abelskov, Kirsten

doi:10.1007/bf00686204

Cited by 17 publications

(3 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…4 Strong homology to a predicted polypeptide (SPAC13G6.04) from an S.Pombe gene was found but the function in yeast was unknown at that time. 4 Subsequently, Jensen syndrome (MIM 311150) was reported to be an allelic disorder caused by a nonsense mutation in the same gene, [5][6][7] (unpublished data). Different mutations in the DDP gene were identified in three families from Australia and the Netherlands 8 (unpublished data), and the clinical presentation was somewhat broadened because the hearing impairment was either congenital or onset in childhood and the neurological abnormality was either ataxia or dystonia.…”

Section: Introductionmentioning

confidence: 99%

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness–dystonia–optic atrophy syndrome

et al. 2000

View full text Add to dashboard Cite

We report the first de novo mutation in the DDP gene in a Dutch 11-year-old boy with deafness and dystonia. Previously reported mutations in the DDP gene have all been frameshifts/nonsense mutations or deletion of the entire gene as part of a larger deletion encompassing the BTK gene. The clinical presentation was uniformly characterised by sensorineural hearing loss, dystonia, mental deterioration, paranoid psychotic features, and optic atrophy, indicating progressive neurodegeneration. Our report illustrates that de novo mutations occur and that a missense mutation, C66W, may cause an equally severe clinical picture. The diagnosis of sensorineural hearing impairment associated with neurologic and visual disability in a male, therefore, should encourage the search for mutations in the DDP gene, even in sporadic cases. The association of deafness-dystonia syndrome with a missense mutation provides valuable information for in vitro investigations of the functional properties of the deafness-dystonia peptide which was recently shown to be the human homolog of a yeast protein, Tim8p, belonging to a family of small Tim proteins involved in intermembrane protein transport in mitochondria.

show abstract

Section: Introductionmentioning

confidence: 99%

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness–dystonia–optic atrophy syndrome

et al. 2000

View full text Add to dashboard Cite

show abstract

“…We can consider optic nerve calcination as a type of calcinates of the central nervous system, which is common, but the localization of this process in the optic nerve is a rare phenomenon [1,4,5,7,8]. Most calci cations of the optic nerve are one-sided process.…”

Section: Introductionmentioning

confidence: 99%

A case of idiopathic unilateral calcification of the optic nerve, chiasm and optic tract.

Piashko

Zhurauliou

Kramarenko

et al. 2022

Preprint

View full text Add to dashboard Cite

Purpose We present a rare case of unilateral calcification of the optic nerve, half of the chiasm, and optic tract. Methods Observational case report. Results The patient has no traumatic history or metabolic disorders which we can associate with this disease. Complete blindness of the left eye noted from the age of 3. We detected nerve calcification at 36 after removing the tuberculum sellae meningioma. Conclusion Our clinical case isn’t a consequence of a meningioma since blindness developed. At this age, the appearance of meningiomas is extremely unlikely, which is confirmed by absence of sings of a tumor on neuroimaging from 2014.

show abstract

“…However, to our knowledge, there is no cerebral calcification or arterial dysplasia in this disease, where cerebral hemorrhages are usually multiple. 40 The report concerned male subjects of the same family, in one of whom a detailed postmortem examination was available. Finally, familial arterial fibrodysplasia 39 normally affects the internal carotid artery; where it was observed in two of our cases it affected the external but not the internal carotid artery.…”

mentioning

confidence: 99%

Activate your online subscription

2000

Neurology

View full text Add to dashboard Cite

Article abstract-Objective: To describe a new familial association of late-onset dementia, patchy leukoencephalopathy, intracerebral hemorrhages, bilateral occipital calcifications (BOC), and external carotid artery dysplasia (ECAD). Methods: At age 62, the proband, who was of Spanish descent, had left temporal hemorrhage in a background of progressive mental deterioration. Neuroimaging revealed fine tram-line BOC, extensive leukoencephalopathy, and bilateral ECAD. Biologic screening for celiac disease was negative. Skin biopsy with ultrastructural study revealed heretofore unreported changes in the basal lamina of capillaries, with multilayered appearance and round-shaped microcalcifications. Of 19 next-of-kin who survived beyond 60 years of age, six had brain disorders; four of the six presented at least three components of the syndrome. The proband's mother had died at age 83 with profound dementia; one sister, who was diagnosed with dementia with BOC and leukoencephalopathy at age 67, died 2 years later from intracerebral hemorrhage; a brother had an occipital hemorrhage at age 58, at which time BOC and leukoencephalopathy were discovered; and another brother died after a minor stroke at age 70 with dementia, leukoaraiosis, BOC, and ECAD. A proband's cousin also had an unexplained ischemic stroke at age 55, but without other features of the entity. In no subject was there evidence of seizures, facial angioma, or intracranial vascular malformation, and arterial hypertension was neither constant nor severe. Conclusion: These clinical, neuroradiologic, and histologic features suggest a new familial cerebrovascular entity with widespread microvascular calcifications and autosomal (presumably dominant) inheritance. We suggest the acronym FOCHS-LADD, for familial occipital calcifications, hemorrhagic strokes, leukoencephalopathy, arterial dysplasia, and dementia.

show abstract

Calcification of the central nervous system in a new hereditary neurological syndrome

Cited by 17 publications

References 12 publications

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness–dystonia–optic atrophy syndrome

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness–dystonia–optic atrophy syndrome

A case of idiopathic unilateral calcification of the optic nerve, chiasm and optic tract.

Activate your online subscription

Contact Info

Product

Resources

About