Oculodental digital dysplasia: neuroimaging in a kindred

Ginsberg, Lawrence E.; Jewett, Tamison; Grub, R.; McLean, William T.

doi:10.1007/bf00593230

Cited by 9 publications

(16 citation statements)

References 10 publications

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“…Only one patient with pain in the lower limbs [45] and three patients with paresthesias have been described in addition to our case [1,24,27]. …”

Section: S Motor Systemmentioning

confidence: 77%

“…A common finding is spasticity [2,48,57], including spastic paraparesis [29,44,45,48,59], spastic diplegia [17], and spastic tetraparesis [1,24]. Brisk reflexes [11,29,53] and pathological reflex signs [24,29,53,57,60] were noted in several patients, but others had normal muscle tone and reflexes [69], hypotonia of the limbs [42], or even absent knee and ankle jerks [37].…”

Section: S Motor Systemmentioning

confidence: 99%

“…Brisk reflexes [11,29,53] and pathological reflex signs [24,29,53,57,60] were noted in several patients, but others had normal muscle tone and reflexes [69], hypotonia of the limbs [42], or even absent knee and ankle jerks [37]. Relatively uncommon findings include general muscle weakness [27], tibial muscle weakness [11], tremor [59], ataxia, in particular an ataxic gait [11,17,53,59], dysdiadochokinesia [63], and dysmetria in finger-to-nose and heel-toskin testing [53].…”

Section: S Motor Systemmentioning

confidence: 99%

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Neurological manifestations of the oculodentodigital dysplasia syndrome

Loddenkemper¹,

Grote²,

Evers³

et al. 2002

Journal of Neurology

157

140

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Oculodentodigital dysplasia (ODDD) (MIM 164200) is a rare autosomal dominant inherited disorder affecting the development of the face, eyes, limbs and dentition. Neurological complications are thought to be occasional manifestations of the disorder. This report illustrates the neurological manifestations by a pedigree of two ODDD patients with spastic paraparesis, cerebral white matter hyperintensity and basal ganglia hypointensity. A systematic review of the English, French, German and Italian literature on ODDD is also provided to summarize the neurological manifestations of the disorder. 243 previously described ODDD cases presented a spectrum of neurological manifestation including spasticity (25), subcortical white matter lesions (9) and basal ganglia changes (6) on MRI. Additional findings consisted of gaze palsy and squinting (28), bladder and bowel disturbances (21), visual loss (20) and blindness (4), hearing loss (15), ataxia (11), nystagmus (9), muscle weakness (5) and paresthesias (3). Neurological manifestations, including spasticity associated with MRI changes, are an underrecognized feature in the ODDD phenotype. A clinical guide to the neurological manifestations of ODDD may assist in the assessment of patients with this condition.

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“…Only one patient with pain in the lower limbs [45] and three patients with paresthesias have been described in addition to our case [1,24,27]. …”

Section: S Motor Systemmentioning

confidence: 77%

Section: S Motor Systemmentioning

confidence: 99%

Section: S Motor Systemmentioning

confidence: 99%

See 1 more Smart Citation

Neurological manifestations of the oculodentodigital dysplasia syndrome

Loddenkemper¹,

Grote²,

Evers³

et al. 2002

Journal of Neurology

157

140

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“…[161, 173] Abnormalities in CNS imaging accompany overt CNS findings, but may also be seen in patients without neurological issues, [170] raising the possibility that many mutations reported as showing no neurologic phenotype may still cause subclinical alterations CNS changes. Along this line, an MRI imaging study [165] of a neurologically symptomatic mother and neurologically normal daughter with ODDD both showed identical changes in the white matter. The clinical and subclinical neurological findings in patients with ODDD are summarized in Table 2.…”

Section: Disease Manifestations Of Gja1 Mutationsmentioning

confidence: 91%

“…A wider range of neurologic symptoms have been reported, [153] including cognitive deficiencies, [157, 170] deafness, [171, 172] disorders of extraocular motility, [161, 168, 171] generalized muscle weakness, and seizures. [152] MRI abnormalities include hypointensity of the deep grey matter, which may reflect iron deposition, and changes in the occipital and periventricular white matter [153, 164, 165]. (See Table 2 for further references to neuroimaging.)…”

Section: Disease Manifestations Of Gja1 Mutationsmentioning

confidence: 99%

Gap junctions in inherited human disorders of the central nervous system

Abrams

Scherer

2012

Biochimica et Biophysica Acta (BBA) - Biomembranes

103

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CNS glia and neurons express connexins, the proteins that form gap junctions in vertebrates. We review the connexins expressed by oligodendrocytes and astrocytes, and discuss their proposed physiologic roles. Of the 21 members of the human connexin family, mutations in three are associated with significant central nervous system manifestations. For each, we review the phenotype and discuss possible mechanisms of disease. Mutations in GJB1, the gene for connexin 32 (Cx32) cause the second most common form of Charcot-Marie-Tooth disease (CMT1X). Though the only consistent phenotype in CMT1X patients is a peripheral demyelinating neuropathy, CNS signs and symptoms have been found in some patients with CMT1X. Recessive mutations in GJC2, the gene for Cx47, are one cause of Pelizaeus-Merzbacher-like disease (PMLD), which is characterized by nystagmus within the first 6 months of life, cerebellar ataxia by 4 years, and spasticity by 6 years of age. MRI imaging shows abnormal myelination. A different recessive GJC2 mutation causes a form of hereditary spastic paraparesis, which is a milder phenotype than PMLD. Dominant mutations in GJA1, the gene for Cx43, cause oculodentodigital dysplasia (ODDD), a pleitropic disorder characterized by oculo-facial abnormalities including micropthalmia, microcornia and hypoplastic nares, syndactyly of the fourth to fifth fingers and dental abnormalities. Neurologic manifestations, including spasticity and gait difficulties, are often but not universally seen. Recessive GJA1 mutations cause Hallermann-Streiff syndrome, a disorder showing substantial overlap with ODDD.

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