Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations

Abstract

During a study of hereditary motor and sensory neuropathy‐Lom in Bulgaria, a previously unrecognized neurological disorder was encountered, mainly in Wallachian Gypsies, who represent a relatively recent genetic isolate. The disorder has been termed the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome to emphasize its salient features. Fifty individuals from 19 extended pedigrees were identified and examined clinically and electrophysiologically. At least 1 patient from each family was admitted to the hospital in Sofia for full investigation. Pedigree analysis indicates autosomal recessive inheritance. The disorder is recognized in infancy by the presence of congenital cataracts and microcorneas. A predominantly motor neuropathy beginning in the lower limbs and later affecting the upper limbs develops during childhood and leads to severe disability by the third decade. Associated neurological features are a moderate nonprogressive cognitive deficit in most affected individuals together with pyramidal signs and mild chorea in some. Accompanying nonneurological features include short stature, characteristic facial dysmorphism, and hypogonadotrophic hypogonadism. Nerve conduction studies suggest a hypomyelinating/demyelinating neuropathy, confirmed by nerve biopsy. The CCFDN syndrome is thus a pleomorphic autosomal recessive disorder displaying a combination of neurological and nonneurological features. Ann Neurol 1999;45:742–750

Intermodal Auditory, Visual, and Tactile Attention Modulates Early Stages of Neural Processing

“…The view that intermodal attention operates early is consistent with imaging studies reporting modulation of sensory cortices with intermodal attention (Tournev et al, 1999; Woodruff et al, 1996) but offers further information about the latency at which such modulations occur. The early latencies observed in the current study support the hypothesis that intermodal attention operates early in the sweep of sensory information to primary and secondary association cortices at latencies as early, or in some cases earlier, than has been reported with spatial attention manipulations.…”

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies

“…It is characterized by the obligate signalling trias of bilateral congenital cataract, developmental delay and later demyelinating neuropathy [1]. Congenital bilateral cataract is the first and invariable presenting sign [2]. Other ocular manifestations are also possible such as microcornea, microphthalmia, micropupil and floppy eyelid [3].…”

“…Varon et al [7] observed an abnormal product in all cell types studied, regardless of their involvement in the clinical phenotype which results in a premature stop codon. The syndrome has been described exclusively in patients of Gypsy ancestry [2,7]. An original description from 1999 reported 50 patients from 19 families from Bulgaria [2].…”

“…The syndrome has been described exclusively in patients of Gypsy ancestry [2,7]. An original description from 1999 reported 50 patients from 19 families from Bulgaria [2]. To date, there have only been a few patients reported from outside of Bulgaria, usually as single case reports.…”

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis

“…Congenital cataracts facial dysmorphism neuropathy syndrome (CCFDN, MIM: 604168) is a rare autosomalrecessive disorder, caused by the IVS6+389C>T mutation in the CTDP1 gene in patients of Gypsy ancestry [1,2]. Recurrent parainfectious rhabdomyolysis may be an integral part of the CCFDN phenotype [3], which has not attracted sufficient attention and may often be overlooked.…”