... Adult onset. Cerebellar ataxia (ARCA1); cerebellar ataxia, frequent upper and/or lower motor neuron involvement, and cognitive impairment typical of the cerebellar cognitive and affective syndrome [ Dupré et al 2007 , Synofzik et al 2016 ] ...

... short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning ...

... 44 years); affected individuals present with a lower motor neuron syndrome involving mainly the larynx, face, and upper limbs [ Puls et al 2005 ]. In contrast with ...

... SYNE1 SYNE1 -related AR cerebellar ataxia French Canadian Upper/lower motor neuron disease Synofzik et al [2016] TTPA Ataxia with vitamin E deficiency (AVED) Similar to FRDA Head titubation (28%) Treat w/vitamin E. 277460 WFS1 Wolfram syndrome Juvenile diabetes Optic atrophy Hearing loss 222300 Less ...

... Slowed ocular saccades Ophthalmoplegia Motor ... leg syndrome 35% Discomfort in legs resulting in uncontrollable urge ...

... progression toward severe spastic tetraparesis and a pseudobulbar syndrome. JPLS is characterized by onset and loss of ability to walk during the second year of life, progressive signs of upper motor neuron disease, wheelchair dependence by adolescence, and later loss ...

... negative inclusions Usually presents w/a frontal lobe syndrome, parkinsonism, dystonia, ... lower motor neurons & cortex Assoc w/~3% of familial ALS & occasionally ...

... approximately 8 to 12 months. Involvement of the upper limbs leading to spastic quadriplegia ... syndrome is associated with hypotonia and primarily lower-limb ...

... region; dysarthria and difficulty swallowing No signs of upper motor neuron disease (e.g., hyperreflexia, spasticity) Family history consistent ... lower motor neurons; individuals with ALS usually display upper motor neuron signs including hyperreflexia and spasticity. Individuals with ALS ...