15 November 2021: Articles
Video Representation of Dopamine-Responsive Multiple System Atrophy Cerebellar Type
Unusual or unexpected effect of treatment
Jonathan Doan A* , Irfan Sheikh A , Lawrence Elmer A , Mehmood Rashid ADOI: 10.12659/AJCR.933995
Am J Case Rep 2021; 22:e933995
Table 1. The possible differential diagnosis with inheritance patterns, characteristic symptoms, and other helpful clinical clues to guide clinical diagnosis.
| Disorder | Inheritance | Clinical symptoms | Other clues |
|---|---|---|---|
| Multiple system atrophy type cerebellar (MSA-C) | Sporadic, genetic markers currently under investigation | Dysautonomia, predominately cerebellar ataxia, sometimes accompanied by sleep disorders | Atrophy of pons, putamen, middle cerebellar peduncles, hyperintense T2 signal “hot cross bun sign,” poor typically poor levodopa responsiveness compared with Parkinson’s disease |
| Multiple system atrophy type parkinsonian (MSA-P) | Sporadic, genetic markers currently under investigation | Dysautonomia, predominately parkinsonian features, sometimes accompanied by sleep disorders | Atrophy of pons, putamen, middle cerebellar peduncles, hyperintense T2 signal “hot cross bun sign,” typically poor levodopa responsiveness compared with Parkinson’s disease |
| Parkinson’s disease | Sporadic, autosomal recessive, some gene mutations reported | Tremor, bradykinesia, rigidity, and postural instability, sometimes accompanied by mood and sleep disorders | Autonomic features less severe than MSA-C/P, good levodopa responsiveness |
| Idiopathic late-onset cerebellar ataxia | Sporadic | Late-onset pure cerebellar ataxia with greater lower extremity impairment | Lack of autonomic features, negative MRI findings, slower progression than MSA-C |
| Alcohol-induced cerebellar ataxia | Sporadic | Impairment of gait usually first, some patients report upper extremity coordination issues, dysarthria, and intermittent visual symptoms | Patient social history, mild Abnormalities in finger to nose testing compared with other cerebellar disorders, absence of cranial nerve disorders, age of onset can be at any age, possible postural tremor, improvement in response to drinking cessation and nutritional supplementation |
| Autosomal dominant spinocerebellar ataxia | AD | Can vary extensively | Many trinucleotide and gene mutations identified, family history, cerebellar atrophy on brain imaging, nerve conduction deficits |
| Paraneoplastic cerebellar degeneration | Sporadic | Dizziness, nausea, and vomiting followed by gait impairment and cerebellar signs | Autoantibodies, history of small cell lung cancer (minority of cases), negative MRI, inflammatory changes in CSF |
| Progressive supranuclear palsy | Sporadic | Supranuclear gaze palsy, progressive axial motor ataxia, pseudobulbar palsy | Truncal ataxia, behavioral issues, sleep difficulties but lack of sleep behavior disturbances |
| Normal pressure hydrocephalus | Sporadic or secondary with some AD cases reported | Urinary incontinence, wide-based ataxia, and cognitive impairment | Normal CSF opening pressure and lack of increased ICP symptoms, responsive to CSF tap or VP shunt |
| AD – autosomal dominant; CSF – cerebrospinal fluid; ICP – intracranial pressure; MRI – magnetic resonance imaging; VP – ventriculoperitoneal. | |||