Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63* and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild intellectual disability, mild nonprogressive, motor symptoms, sustained benefit from small dose of levodopa, and substantial worsening of symptoms after levodopa discontinuation. Neuropathology (Proband-A) revealed no alpha-synuclein pathology, and substantia nigra depigmentation with moderate cell loss. DNAJC12 transcripts were reduced in both patients. Our results suggest that DNAJC12 mutations (absent in 500 early-onset patients with Parkinson's disease) rarely cause dopa-responsive nonprogressive parkinsonism in adulthood, but broaden the clinical spectrum of DNAJC12 deficiency. Ann Neurol 2017;82:640-646.
It is shown that over an arbitrary countable field, there exists a finitely generated algebra that is nil, infinite dimensional, and has Gelfand-Kirillov dimension at most three.2010 Mathematics subject classification: 16N40, 16P90
We study important invariants and properties of the Veronese subalgebras of q-skew polynomial rings, including their discriminant, center and automorphism group, as well as cancellation property and the Tits alternative.2000 Mathematics Subject Classification. Primary 16W20.
Smoktunowicz, Lenagan, and the second-named author have recently given an example of a nil algebra of Gelfand-Kirillov dimension at most three. Their construction requires a countable base field, however. We show that for any field k and any monotonically increasing function f (n) which grows super-polynomially but subexponentially there exists an infinite-dimensional finitely generated nil k-algebra whose growth is asymptotically bounded by f (n). This construction gives the first examples of nil algebras of subexponential growth over uncountable fields.2000 Mathematics Subject Classification. 16N40, 16P90.
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