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Hereditary Forms (hereditary + form)

Distribution by Scientific Domains
Medical Sciences100%

Selected Abstracts

Two generations with familial thrombotic thrombocytopenic purpura

INTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 1 2006
R. G. Rodrigues
Summary Thrombotic thrombocytopenic purpura (TTP) is a rare multi-system disease characterised by the pentad of microangiopathic haemolytic anaemia, thrombocytopenia, renal dysfunction, fever and neurologic changes. A hereditary form of recurrent familial TTP has been described, which usually presents in adolescence or early adulthood and can lead to recurrent or chronic relapsing TTP. Genetic analyses of patients with familial TTP have linked the disease to chromosome 9q34, and an increased incidence is seen in people with HLA-B40 group antigens. We describe here an 11-year-old Egyptian girl with no significant past medical history who presented with new onset of bruising, petechial rash, fatigue and fevers and was diagnosed with familial TTP. Further testing revealed that both the patient and her father had the HLA-B40 group antigen and also had ADAMTS-13 von Willebrand factor-cleaving protease deficiency as well as factor-H deficiency. [source]

Palmoplantar hyperkeratosis in Irish terriers: evidence of autosomal recessive inheritance

JOURNAL OF SMALL ANIMAL PRACTICE, Issue 2 2000
H. Binder
An abnormal development of the epidermis of the footpad was observed in Irish terriers. At the age of six months, the affected animals developed smooth parchment-like footpads. The pad epidermis then hardened and grew lateral cone-like protrusions of up to 5 mm in diameter. Fissures and cracks developed and these predisposed the animal to secondary infection. The repeated occurrence in subsequent generations led to the assumption of a hereditary form of hyperkeratosis. Evidence for an autosomal recessive mode of inheritance was derived from a retrospective analysis of the breeder's records. The clinical, histopathological and ultrastructural features of the disease are presented and the genetic transmission and its implications discussed. [source]

Molecular imaging in hereditary forms of parkinsonism

EUROPEAN JOURNAL OF NEUROLOGY, Issue 4 2007
M. C. Shih
The development of in vivo molecular imaging to evaluate the dopamine (DA) system with positron-emission tomography and single photon emission computed tomography has been of key importance on monitoring in vivo nigrostriatal neuronal loss in Parkinson's disease (PD), mostly through assessments of pre- and post-synaptic DA receptors. The discoveries of genes related to hereditary forms of parkinsonism (PARK1, PARK2, PARK6, PARK7 and PARK8) have increased our understanding either of distinct subtypes of clinical expression in PD or its etiology. This article revises current data on molecular neuroimaging of genetic forms of parkinsonism comparing and contrasting its main features with the classical sporadic forms. Awareness of the spectrum variance in the genotype and its respective PD phenotype are useful to distinguish different pathophysiological mechanisms of PD. [source]

Early cinematographic studies of generalized dystonia

MOVEMENT DISORDERS, Issue 10 2006
Christopher G. Goetz MD
Abstract Among movement disorders, dystonia is a particularly complex phenomenon and difficult to describe. For this reason, cinematographic documents were particularly important to the establishment of this disorder within the neurological nosology. The seminal 1944 article on dystonia by E. Herz anchored its arguments in moving film documentation, published with frame-by-frame demonstrations of dystonic patients. Although the original films that comprised the basis of this article have not been located, two related contemporaneous films, one by Herz in association with T.J. Putnam, and one by S.P. Goodhart and B.H. Balser, have been located. Incorporating standard and several innovative filming techniques, these films and their accompanying text material capture the particular movements of dystonia, revealing the anatomical patterns of the twisting spasms, and emphasize their action exacerbation. The films demonstrate the variety of dystonic movements appreciated during this period, consider psychogenic, postencephalitic, and hereditary forms, and refer to the treatment of dystonia by surgery and plaster casts. © 2006 Movement Disorder Society [source]

Syndromic craniosynostosis: from history to hydrogen bonds

ORTHODONTICS & CRANIOFACIAL RESEARCH, Issue 2 2007
ML Cunningham
Structured Abstract Authors,,, Cunningham ML, Seto ML, Ratisoontorn C, Heike CL, Hing AV The syndromic craniosynostoses, usually involving multiple sutures, are hereditary forms of craniosynostosis associated with extracranial phenotypes such as limb, cardiac, CNS and tracheal malformations. The genetic etiology of syndromic craniosynostosis in humans is only partially understood. Syndromic synostosis has been found to be associated with mutations of the fibroblast growth factor receptor family (FGFR1, -R2, -R3), TWIST1, MSX2, and EFNB1. Apert, Pfeiffer, Crouzon, and Jackson-Weiss syndromes are due to gain-of-function mutations of FGFR2 in either the Ig II,III linker region (Apert) or Ig III domain. Loss of function mutations of TWIST1 and gain-of-function mutations of MSX2 lead to Saethre,Chotzen and Boston-type syndromes, respectively. The mutations in Pfeiffer (FGFR1), Muenke (FGFR3), and Apert syndrome (FGFR2) are caused by the same amino acid substitution in a highly conserved region of the Ig II,III linker region of these proteins, which suggests that these receptor tyrosine kinases have an overlapping function in suture biology. In this review we will discuss the historical descriptions, current phenotypes and molecular causes of the more common forms of syndromic craniosynostosis. [source]