A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor

Malco Rossi; Martin Cesarini; Emilia M. Gatto; Angel Cammarota; Marcelo Merello

doi:10.5334/tohm.411

Figures & Tables

Video 1

Cerebrotendinous xanthomatosis revealed by ataxia and palatal tremor in the absence of tendon xanthomas and cataracts. A 30-year-old female with genetically confirmed cerebrotendinous xanthomatosis showing mild limb and gait ataxia (Segment 1A and 1B) and palatal tremor at low frequency (Segment 1C).

Imaging of both feet. Atrophy of the distal foot muscles and absence of xanthomas in the Achilles tendons. There were also no xanthomas in other body parts.

Brain Magnetic Resonance Imaging. (A) Flair and T2-weighted images display mild cerebellar atrophy and bilateral hyperintensity of the dentate nuclei on Flair and T2-weighted images with a central hypointensity suggestive of calcification (left and central). Bilateral hyperintensity of the basal ganglia (right). (B) Olivary nuclei with a serpingous abnormal signal (left). Subtle calcifications in the white matter surrounding the dentate nucleus (right).

Table 1

Differential Diagnosis of Progressive Ataxia and Palatal Tremor

Disease Name (Gene)	Inheritance	Main Clinical Features Besides Ataxia and Palatal Tremor	MRI Findings
Spinocerebellar ataxia type 20 (SCA20)13,17	AD	Dysphonia resembling spasmodic dysphonia, dysarthria, hypermetric saccades, postural tremor, pyramidal signs	Dentate calcifications and cerebellar atrophy
Spastic paraplegia type 7 or HSP/ATX-SPG7 (SPG7)18	AR/AD	Spastic paraparesis, optic atrophy, nystagmus, chronic external ophthalmoplegia-like phenotype, pes cavus, decreased vibratory sense in the lower limbs, scoliosis	Cerebellar and spinal cord atrophy
Neuroferritinopathy or NBIA/CHOR-FTL (FTL)19,20	AD	Chorea, oromandibular dyskinesia, dystonia, parkinsonism, dysphagia, psychiatric symptoms, cognitive impairment	Iron accumulation in globus pallidus, caudate, putamen, substantia nigra, red nucleus; cystic basal ganglia changes and pallidal necrosis
Alexander disease (GFAP)10,21–23	AD	Psychomotor regression, spasticity, seizures, pyramidal signs, pseudobulbar signs, macrocephaly	Extensive cerebral white-matter abnormalities with a frontal preponderance, periventricular rim, basal ganglia abnormalities, hydrocephalus
POLG-related disorders (POLG)24–27	AR	Dystonia, chorea, myoclonus, tremor, progressive external ophthalmoplegia, seizures, cognitive impairment, psychiatric symptoms, cataracts, optic atrophy, peripheral neuropathy, muscle weakness and atrophy, hypogonadism, stroke-like episodes	Cerebellar atrophy or normal
GM2-gangliosidosis type II or Sandhoff disease (HEXB)28	AR	Progressive mental and motor deterioration, macular cherry red spot, blindness, spastic paraparesis, muscular atrophy, fasciculations, dysmorphic features, startle reaction, cardiomegaly, episodic abdominal pain, chronic diarrhea, hepatosplenomegaly	Bilateral symmetric thalamic lesions, hyperintensities in the periventricular, deep, and subcortical white matter, delayed myelination
Progressive ataxia and palatal tremor due to a four-repeat tauopathy29,30	Sporadic	Dysarthria, dysphagia, hearing loss, blurring vision, nystagmus	T2 hyperintensities in the bilateral inferior olivary nuclei and cerebellar atrophy
Progressive ataxia and palatal tremor syndrome10,31,32	Sporadic (rarely familial)	Dysarthria, nystagmus	T2 hyperintensity and hypertrophy of the bilateral inferior olivary nuclei and cerebellar atrophy
Gluten sensitivity ataxia33	Sporadic	Dysarthria	T2 hyperintensity and hypertrophy of the bilateral inferior olivary nuclei and cerebellar atrophy
Multiple system atrophy (cerebellar subtype)19	Sporadic	Autonomic failure, action tremor, nystagmus, pyramidal signs, dysarthria, dysphagia	Atrophy of the putamen, middle cerebellar peduncle, or pons. The “hot-cross-bun sign” (cruciform hyperintensity in the pons) in T2-weighted sequences

[i] Abbreviations: AD, Autosomal Dominant; AR, Autosomal Recessive; MRI, Magnetic Resonance Imaging.

A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor

Figures & Tables

Video 1

Figure 1

Imaging of both feet. Atrophy of the distal foot muscles and absence of xanthomas in the Achilles tendons. There were also no xanthomas in other body parts.

Figure 2

Table 1

Differential Diagnosis of Progressive Ataxia and Palatal Tremor

Paradigm

My account