Autosomal Dominant Alternating Hemiplegia
Pediatric Neurology Briefs, 1993 The familial occurrence and autosomal dominant inheritance of alternating hemiplegia of childhood is reported from Children’s Hospital, and Massachusetts General Hospital, Harvard Medical School, Boston.
J Gordon Millichap
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A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats. [PDF]
, 2013 One of the salient features of the domestic cat is the aesthetics of its fur. The Selkirk Rex breed is defined by an autosomal dominant woolly rexoid hair (ADWH) abnormality that is characterized by tightly curled hair shafts.
Alhaddad, Hasan +6 more
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Autosomal Dominant Juvenile Amyotrophic LS
Pediatric Neurology Briefs, 1999 The clinical and electrodiagnostic findings in 49 affected family members and neuropathological findings from two autopsies of a Maryland kindred with autosomal dominant juvenile amyotrophic lateral sclerosis (ALS) are reported from Johns Hopkins ...
J Gordon Millichap
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SPG10 is a rare cause of spastic paraplegia in European families [PDF]
, 2008 Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport.
Auer-Grumbach, M. +10 more
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SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
Frontiers in Medicine, 2021 The small nuclear ribonucleoprotein 200 kDa (SNRNP200) gene plays a key role in the maturation of pre-message RNA (pre-mRNA) splicing with the indication for the etiology of retinitis pigmentosa (RP).
Tao Zhang +13 more
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Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors [PDF]
, 2016 Autosomal dominant lateral temporal epilepsy (ADTLE) is a focal epilepsy syndrome caused by mutations in the LGI1 gene, which encodes a secreted protein.
Belluzzi, Elisa +7 more
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Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
Annals of Clinical and Translational Neurology, 2023 SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L‐serine from astrocytes into neurons. Individuals with biallelic variants in SLC1A4 are known to have spastic tetraplegia, thin corpus callosum, and progressive microcephaly ...
Jonai Pujol‐Giménez +33 more
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CADASIL: A monogenic condition causing stroke and subcortical vascular dementia [PDF]
, 2002 Mutations in Notch3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an inherited small vessel disease leading to subcortical strokes and vascular dementia. The phenotypic presentation
Dichgans, Martin
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Autosomal dominant Parkinson’s disease [PDF]
Journal of Neurology, 1998 Multiple factors have been hypothesized over the years to be contributory and or causative for Parkinson's disease (PD). Hereditary factors, although originally discounted, have recently emerged in the focus of PD research. The study of a large Italian family with PD using a genome scan approach led to the mapping of a PD susceptibility gene to the ...
Christina, Sundal +3 more
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De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. [PDF]
, 2016 BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease ...
Abelazeem, Amira A +10 more
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