Exact(4)
Autosomal dominant transmission with incomplete penetrance and variable expressivity is suggested in 6 10 % familial types; no specific gene has been identified, though [17].
In familial types of parkinsonism, mutant forms of α-syn [23] have been shown to disrupt lysosomal clearance by blocking CMA.
A study by Re et al. found that necroptosis is the key mechanism of neurodegeneration in both sporadic and familial types of amyotrophic lateral sclerosis (ALS).
The hCMEC/D3 cell line was used to study cerebral amyloid angiopathy (CAA), an age-associated hemorrhagic condition commonly found in sporadic as well as some familial types of Alzheimer's disease.
Similar(56)
(The others were feeblemindedness of the familial type, schizophrenia, manic-depressive psychosis and epilepsy).
Further genetic testing will rule out or confirm a hereditary (familial) type of amyloidosis.
Cases of non-familial nocturnal frontal lobe epilepsy (NFLE) are more common than the familial type and the phenotypes of the two are similar.
To investigate this hypothesis, we have examined the in vitro X-ray sensitivity of skin fibroblast strains derived from three retinoblastoma patients—a pair of twins with the familial type accompanied by no gross chromosome abnormalities, and a patient with the D-deletion type.
The latter group is composed of patients who inherit the tumour with a dominant mode of transmission (80 90% penetrance) (referred to as the familial type) or those who bear a deletion in the long arm of chromosome 13 (13q-) (referred to as the D-deletion type).
VapB mutations cause a familial type of amyotrophic lateral sclerosis (ALS8) (42), and SPG21/maspardin mutations cause spastic paraplegia 21 (43).
The risk-associated HLA genotypes have been observed more often in familial type 1 diabetes (8, 20, 22, 23), although not all studies have found significant differences (24).
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