Hereditary dentatorubropallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder. Clinical and genetic findings in hereditary DRPLA are very similar to those of Huntington's disease (HD). However, it can be differentiated from HD by the pathological findings of dentatorubral and pallidoluysian atrophies and by a lack of prominent atrophy of the striatum at necropsy. The...

BACKGROUND Papillary renal cell carcinoma is a rare cancer. Some cases can be attributed to individuals with hereditary renal cell carcinomas usually consisting of the clear cell subtype. In addition, two syndromes with hereditary papillary renal cell carcinoma have been described. One is the hereditary leiomyomatosis and renal cell carcinoma, which is characterized by cutaneous and uterine lei...

Notations and conventions 296 Introduction 296 I. Serre duality and almost split sequences 300 I.1. Preliminaries on Serre duality 300 I.2. Connection between Serre duality and Auslander–Reiten triangles 304 I.3. Serre functors on hereditary abelian categories 307 II. Hereditary noetherian abelian categories with non-zero projective objects 309 II.1. Hereditary abelian categories constructed fr...

Hereditary spastic paraplegias are a heterogeneous group of chronic central motor system disorders, characterised by progressive lower limb spasticity. Hereditary spastic paraplegia is clinically classified into pure and complicated forms, by the absence or presence of additional neurological or extra-neurological features. Hereditary spastic paraplegias follow all modes of inheritance and the ...

Hereditary chin trembling is a rare autosomal dominant disease often considered as an "essential tremor variant". The clinical and neurophysiological data obtained in a new white family lead to the suggestion that this abnormal involuntary movement is a focal variant of hereditary essential myoclonus.

We consider the question, which of the major classes defined by topological diagonalizations of open or Borel covers is provably, or at least consistently, hereditary. Many of the classes in the open case are not hereditary already in ZFC. We show that none of them is provably hereditary. This is contrasted with the Borel case, where some of the classes are provably hereditary. We also give two...

1. Ataxia Telangiectasia (includes Ataxia Telangiectasia 12 Complementation Groups A, C, D, E, Louis–Barr Syndrome) 2. Basal Cell Nevus Syndrome, Nevoid Basal Cell 18 Carcinoma Syndrome, or Gorlin Syndrome 3. Beckwith–Wiedemann Syndrome 19 (Exomphalos–Macroglossia–Gigantism Syndrome) 4. Birt–Hogg–Dubé Syndrome 20 5. Bloom Syndrome 21 6. Breast/Ovarian Cancer, Hereditary (BRCA1) 22 7. Breast/Ova...

A graph is distance-hereditary if for any pair of vertices, their distance in every connected induced subgraph containing both vertices the same as original graph. The Distance-Hereditary Vertex Deletion problem asks, given a G on n and an integer k, whether there set S at most k such that $$G-S$$ distance-hereditary. This important due to its connection parameter rank-width because graphs are ...

Steroid sulphatase deficiency is a recently recognised genetically determined inborn error of metabolism. Originally identified as an enzyme disorder of the placenta (commonly termed placental sulphatase deficiency), it is now known that the progeny of affected pregnancies have a generalised steroid sulphatase deficiency and that the enzyme defect persists throughout life. The disorder is chara...