Objective: Introduction: Leukodystrophies are primarily known as childhood diseases, but recent advances in genetic testing and brain imaging have led to an increase in reports of adult-onset leukodystrophy. Since its clinical manifestation is nonspecific, the diagnosis of adult onset leukodystrophy is challenging. Here, we report the identification of adult-onset TUBB4A-related leukodystrophy in a patient presenting with progressive spastic paraplegia.

Background: Case: A 35-year-old woman visited the outpatient clinic, reporting progressive gait disturbance due to left leg spasticity. Her symptoms started four years ago, and she had no previous problems of walking. She visited an orthopedic clinic with the above symptoms but no specific orthopedic abnormalities were identified.

Method: Her past medical history was unremarkable, with no history of hypoxic event, but her father reported that she had slurred speech and poor academic performance since childhood. The patient had a slight limping gait four years ago, but the symptom has gradually worsened, and now she drags her left leg while walking. The patient reported that her mother had similar gait problems, but confirmation was not possible since patient was not in contact with her mother.

Results: The patient’s level of consciousness was alert. The neurological examination revealed hyperactive bilateral triceps/patellar reflexes and positive Hoffmann’s sign in left hand, with no sensory symptoms. Brain MRI image showed bilateral diffuse hyperintensity throughout white matter in T2 weighted image. T1 weighted image showed mild cerebral/cerebellar atrophy. Based on her family history and brain MRI findings, genetic testing was performed for a gene that can cause leukoencephalopathy. Arylsulfatase A and very long chain fatty acids tests were first performed and found to be normal. In the subsequent next generation sequencing (NGS) panel test, the pathogenic variant(c.286G>A) of the TUBB4A gene was confirmed. The patient is taking baclofen and procyclidine hydrochloride for symptoms and is on regular outpatient follow-up.

Conclusion: Discussion: This case report describes a patient who presented with progressive spastic paraplegia in adulthood without definite extrapyramidal symptom or dystonia, attributed to a TUBB4A-related leukodystrophy. This case suggests that patient with adult onset spastic paraplegia might be considered in adult onset leukodystrophy patient.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/adult-onset-spastic-paraplegia-in-tubb4a-leukodystrophy/