Ataxia and cerebellar anomalies - narrow panelGene: ADPRHL2
Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy.
Sources: Expert list
Created: 12 Sep 2020, 1:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170
Variants in this GENE are reported as part of current diagnostic practice
gene: ADPRHL2 was added gene: ADPRHL2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADPRHL2 were set to 30100084; 30401461 Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170 Review for gene: ADPRHL2 was set to GREEN gene: ADPRHL2 was marked as current diagnostic