Berger et al. (2002) described familial lipodystrophy associated with congenital cataracts and cerebellar and spinal cord dysfunction. The proposita, a 28-year-old woman with congenital partial lipodystrophy and cataracts, presented with a spastic-ataxic gait and lower extremity paresthesias at ... Berger et al. (2002) described familial lipodystrophy associated with congenital cataracts and cerebellar and spinal cord dysfunction. The proposita, a 28-year-old woman with congenital partial lipodystrophy and cataracts, presented with a spastic-ataxic gait and lower extremity paresthesias at age 18 years. Laboratory investigation demonstrated a type V hyperlipidemia pattern, insulin resistance, and high alpha-tocopherol levels. Lack of fat in the face and upper body was noted at birth, and a small jaw necessitated multiple teeth extractions. In addition to congenital cataracts, she was said to have pigmentary retinopathy, lack of breast development, and pancreatitis complicating hyperlipidemia. She had symptomatic orthostatic hypotension and mild acanthosis nigricans. Her legs were spastic with spontaneous clonus, brisk reflexes, and bilateral Babinski signs. MRI of the cervical spine showed a signal abnormality in the spinal cord. Peroxisomal function panels were normal, and muscle biopsy showed no features suggestive of a mitochondrial disorder. Her father and his sister, 2 of 5 children, were similarly affected. The father had congenital cataracts, retinitis pigmentosa, and mild hyperlipidemia. Absence of facial, neck, and extremity fat was noted. Neurologic manifestations appeared to be minimal. The affected paternal aunt died from a neurologic condition at approximately age 40. The cause of death was attributed to multiple sclerosis. She had a fat distribution resembling that in the other 2 patients. Lower extremity weakness and ataxia started at the age of 18 to 20 years. Her condition deteriorated rapidly and she was wheelchair-bound within 2 years.
In a family with lipodystrophy associated with neurodegeneration and congenital cataracts, Berger et al. (2002) found no mutations in several candidate genes, including the spinocerebellar ataxia genes 1 through 7, the lamin A/C ... - Exclusion Studies In a family with lipodystrophy associated with neurodegeneration and congenital cataracts, Berger et al. (2002) found no mutations in several candidate genes, including the spinocerebellar ataxia genes 1 through 7, the lamin A/C gene (150330), and the BSCL2 gene (606158).