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Atrophy/Degeneration affecting the cerebrum

MedGen UID:
870452
Concept ID:
C4024898
Pathologic Function
HPO: HP:0007369

Definition

The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. [from HPO]

Conditions with this feature

Spinocerebellar ataxia type 29
MedGen UID:
350085
Concept ID:
C1861732
Disease or Syndrome
Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).

Recent clinical studies

Diagnosis

Dougherty M, Lazar J, Klein JC, Diaz K, Gobillot T, Grunblatt E, Hasle N, Lawrence D, Maurano M, Nelson M, Olson G, Srivatsan S, Shendure J, Keene CD, Bird T, Horwitz MS, Marshall DA
Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001222. doi: 10.1101/mcs.a001222. PMID: 27900365Free PMC Article

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