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T Perniola

Publications and source records attributed to T Perniola.

At least 19 recordsLinked to original sources
PubMed2006

The strange association between achondroplasia and neurofibromatosis type 1: molecular analysis of a new patient and review of the literature.

The association between Achondroplasia and Neurofibromatosis type 1 has been described in only three patients. We report the clinical features and molecular characterization of a new patient with de novo ACH and NF1, providing for the first time a detailed clinical and molecular evaluation. Even if this association seems coincidental, some startling, intriguing correlations are discussed at the clinical and molecular level, between ACH, NF, and the existence of a common "mutator" genotype.

Achondroplasia↗
PubMed2004

Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication.

We report a 19-year-old woman with minor craniofacial anomalies, mild mental retardation, and foramina parietalia permagna (FPP) (OMIM 168500). Cytogenetic analysis showed a de novo interstitial chromosome 22 long arm duplication. FISH with a panel of chromosome 22q12-q13 bands-specific BAC clones refined the cytogenetic investigation, and restricted the duplicated segment to the q12 region. Mutation analysis of FPP genes identified an insertion mutation in the ALX4 gene (344insC) in the proband and her father with loss of function of the gene. The patient's phenotype is considered in the light of the results of the cytogenetic, FISH, and molecular investigations, and her features are compared with those of other patients with similar duplications. Finally, variable phenotypic findings due to different 22q duplicated chromosomal segments are discussed. Our report indicates that 22q12 interstitial duplications are associated with craniofacial anomalies and mild mental retardation, while life threatening malformations are usually not present. Although these phenotypic changes are common and non-specific, molecular study of our patient established more precise relationships between clinical findings and 22q duplicated region(s). This approach fosters better counseling of the families of patients with newly diagnosed, similar duplications.

Abnormalities, Multiple↗
PubMed2001

Familial paroxysmal exercise-induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance.

Only few sporadic and familial cases of paroxysmal exercise-induced dyskinesia (PED) have been described in literature. PED associated with familial epilepsy has been rarely reported. We describe a family in which six members in different generations were affected by a long-lasting PED, with childhood onset in five cases. Fasting and stress were also precipitating factors. All the subjects, moreover, showed epileptic seizures during childhood and adolescence. In addition, in all cases a condition of mild mental retardation was also documented, associated in some cases, with irritable and impulsive behaviour. Clinical, neurophysiological, neuroimaging and neuropsychological findings were reported. The homogeneous recurrence of this particular clinical picture in members of three generations emphasised a common genetic basis. In our patients, PED is transmitted as an autosomal dominant trait, with age-dependent penetrance, without evidence of genetic anticipation. The neurophysiological findings suggest a condition of hyperexcitability in the muscular and brain membrane, due to a ion channels disorder.

Adult↗
PubMed2000

Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder.

We report a family with 6 members affected by a long-lasting paroxysmal exertion-induced dyskinesia. Fasting and stress were precipitating factors. All the patients of this family had also epileptic seizures mainly of generalised type with a favourable outcome. All patients were submitted to a neurophysiological study which included somatosensory evoked potentials by median nerve stimulation (MN-SEPs), somatosensory evoked potentials by posterior tibial nerve stimulation (PTN-SEPs), brainstem auditory evoked potentials (BAEPs), visual evoked potentials (VEPs), motor evoked potentials (MEPs) by magnetic transcranial cortical stimulation (TCS) and electromyography (EMG). The neurophysiological findings suggest a hyperexcitability at the muscular and brain membrane levels, probably due to an ion channel disorder.

Adult↗
PubMed1991

Multiple sclerosis in childhood. Longitudinal study in 14 cases.

The Authors review the literature on the occurrence of multiple sclerosis in children and add 14 personal cases below the age of 15.5 years, the youngest being 6.4 years old. Modality of onset, clinical course, clinical classification according to the criteria proposed by McDonald and Halliday, paraclinical evidence of lesions and disability grade at the last control are widely discussed. Eleven cases were scheduled as clinically definite multiple sclerosis. In the youngest children the recovery may be often complete or the disability grade may be low.

Adolescent↗
PubMed1989

Neurophysiological follow-up in a case of chronic progressive epilepsia partialis continua of childhood.

We report the waking and sleeping polygraphic and evoked potential data recorded during the follow-up of a child with chronic progressive epilepsia partialis continua of childhood (Bancaud's type II). The findings that emerged from these investigations coupled with the clinical pattern enabled us to delineate the course of this rare condition and provided clues for a tentative interpretation of the pathogenesis of the repetitive myoclonic jerks typical of epilepsia partialis continua, on which there is as yet no consensus. In our case involvement of cortico-subcortical systems seems probable.

Child↗
PubMed1982

Schwartz-Jampel syndrome with autosomal-dominant inheritance.

A 4-year follow-up study of 2 brothers affected by Schwartz-Jampel syndrome is reported. The children, aged 16 and 7 years, respectively, showed the clinical and electromyographical signs of the disorder. Further investigation showed some typical facial features of the syndrome, percussion myotonia and abnormal EMG pattern characterized by continuous muscle activity at rest in 3 other members of the same family. On the basis of our data, we suggest that inheritance of the Schwartz-Jampel syndrome may not only be recessive, as reported by most authors, but also dominant, with a different clinical expression.

Abnormalities, Multiple↗
PubMed1979

[Central von Recklinghausen disease: report of a clinical case with multifocal symptoms and hydrocephalus due to stenosis of the aqueduct (author's transl)].

A case of von Recklinghausen disease is described in a boy aged 9 years, whose major manifestation was a severe progressive hydrocephalus due to aqueductal stenosis. Family history revealed an autosomal dominant mode of inheritance of the neurofibromatosis. Like other reports in the literature, our case suggests secundary aqueductal stenosis to gliosis typical of "central" forms of von Recklinghausen disease. It seems probable that aqueductal stenosis is dependent on periaqueductal gliosis.

Cerebral Aqueduct↗