X-Linked bulbo-spinal neuronopathy of late onset: sporadic case

1985 ◽  
Vol 6 (1) ◽  
pp. 113-114
Author(s):  
R. Fabbri ◽  
P. Martinelli
Keyword(s):  
Late Onset ◽  
Sporadic Case

scholarly journals A SPORADIC CASE OF ERYTHROKERATODERMIA VARIABILIS IN AN ADULT

2019 ◽  
pp. 1-2
Author(s):  
Anupama Wahengbam
Keyword(s):  
Late Onset ◽  
Sporadic Case ◽  
Diverse Group

Erythrokeratoderma are diverse group of genodermatosis affecting keratinization under which, Erythrokeratodermia Variabilis ( EKV) was first described in 1925 by Mendes da Costa. Our patient is a 48 year old male presenting clinically with EKV Mendes Da Costa, hyperkeratotic subtype with the histopathology supportive of the diagnosis. We are reporting for its rarity and due to its late onset in our patient and also for the sporadic nature of this particular case of EKV.

A sporadic case of late-onset familial amyloid polyneuropathy with Bence-Jones proteinuria

1999 ◽  
Vol 246 (8) ◽  
pp. 726-727 ◽  
Author(s):  
M. Yamada ◽  
A. Nonaka ◽  
T. Kamata ◽  
T. Furuya ◽  
H. Mizusawa
Keyword(s):  
Late Onset ◽  
Sporadic Case ◽  
Familial Amyloid Polyneuropathy ◽  
Amyloid Polyneuropathy ◽  
Bence Jones Proteinuria

A sporadic case of late-onset familial amyloid polyneuropathy with a monoclonal gammopathy

2015 ◽  
Vol 25 (8) ◽  
pp. 658-660
Author(s):  
Ana Sofia Correia ◽  
Marcelo Mendonça ◽  
André Caetano ◽  
Elmira Medeiros
Keyword(s):  
Monoclonal Gammopathy ◽  
Late Onset ◽  
Sporadic Case ◽  
Familial Amyloid Polyneuropathy ◽  
Amyloid Polyneuropathy

Recovery from respiratory muscle failure in a sporadic case of Brown-Vialetto-Van Laere syndrome with unusually late onset

1992 ◽  
Vol 239 (6) ◽  
pp. 355-356 ◽  
Author(s):  
G. Piccolo ◽  
E. Marchioni ◽  
M. Maurelli ◽  
F. Simonetti ◽  
F. Bizzetti ◽  
...  
Keyword(s):  
Respiratory Muscle ◽  
Late Onset ◽  
Sporadic Case

scholarly journals The French concept of "psychose hallucinatoire chronique" -a preliminary form of schizophrenia? The role of late-life psychosis in the anticipation hypothesis of schizophrenia

2001 ◽  
Vol 3 (4) ◽  
pp. 296-303
Keyword(s):  
Negative Symptoms ◽  
Late Onset ◽  
Familial Aggregation ◽  
Sporadic Case ◽  
Severe Form ◽  
Schizophrenia Spectrum ◽  
Multiplex Families ◽  
Unstable Mutations ◽  
The Impact

The distinction between schizophrenia and chronic delusional syndromes (including the French concept of "psychose hallucinatoire chronique" [PHC] or chronic psychotic hallucinations, paraphrenia, and late paraphrenia) is currently used in various European countries, although there are no international criteria for chronic and bizarre delusions. The French concept of PHC is characterized by late-onset psychosis, predominantly in females, with rich and frequent hallucinations, but almost no dissociative features or negative symptoms. PHC and late-onset schizophrenia may have risk factors in common, which may help differentiate these disorders from young-onset schizophrenia, especially with regard to the potential role of (i) the estradiol hypothesis; (ii) the impact of sensory deficit; (Hi) putative specific brain abnormalities; or (iv) specific genetic mutations. In accordance with this hypothesis, and taking into account the familial aggregation analyses of PHC, here we evaluate the possibility that PHC represents a less severe form of schizophrenia, which would partly explain the "Sherman paradox" also observed in schizophrenia. The Sherman paradox describes the fact that multiplex families frequently have only one affected ascendant, meaning that an isolated sporadic case is at the origin of a highly loaded family. We thus propose that if unstable mutations are involved in the risk for schizophrenia, then PHC might represent a moderate disorder belonging to the schizophrenia spectrum phenotype.

A sporadic case of porokeratosis plantaris palmaris et disseminata

1998 ◽  
Vol 138 (3) ◽  
pp. 556-557 ◽  
Author(s):  
Lucke ◽  
Fallowfield ◽  
Kemmett
Keyword(s):  
Sporadic Case ◽  
Palmaris Et Disseminata
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